Bone marrow transplantation for autosomal recessive osteopetrosis A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group
Identifieur interne : 000628 ( Istex/Corpus ); précédent : 000627; suivant : 000629Bone marrow transplantation for autosomal recessive osteopetrosis A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group
Auteurs : Egbert J. A. Gerritsen ; Jaak M. Vossen ; Anders Fasth ; Wilhelm Friedrich ; Gareth Morgan ; Andrew Padmos ; Ashok Vellodi ; Oscar Porras ; Ann O'Meara ; Fulvio Porta ; Pierre Bordigoni ; Andrew Cant ; Jo Hermans ; Claude Griscelli ; Alain FischerSource :
- The Journal of Pediatrics [ 0022-3476 ] ; 1994.
English descriptors
- KwdEn :
- Teeft :
- Actuarial probability, Autosomal recessive osteopetrosis, Bone marrow graft, Bone marrow transplantation, Bone resorption, Carbonic anhydrase, Case report, Congenital, Congenital diseases, Congenital osteopetrosis, Costa rica, Donor, East hospital, Engraftment, European group, Evaluable, Evaluable patients, Full engraftment, Functional antigen type, General hospital, Gerritsen, Graft, Graft failure, H6pital necker enfants malades, High doses, Human osteopetrosis, Hypercalcemia, Impairment, Infantile, Infantile osteopetrosis, Juvenile osteopetrosis, Kilogram body weight, Macrophage, Macrophage factor, Main causes, Malignant, Malignant osteopetrosis, Marrow, Marrow transplantation, Medical treatment, Monoclonal antibody, More nonidentical, Myeloablative conditioning, National hospital, Natural course, Neuronal storage disease, Nonidentical, Optic nerve decompression, Osteoclast, Osteoclast function, Osteopetrosis, Osteopetrotic mice, Parathyroid hormone, Pediatr, Pediatrics, Pediatrics december, Pediatrics volume, Progressive neurodegeneration, Research center, Saudi arabia, Severe hypercalcemia, Sick children, Small subgroup, Spastic diplegia, Surgical decompression, Transplant, Transplantation, University hospital, Unrelated donor, Unrelated donors, Visual impairment.
Abstract
Abstract: The outcomes of 69 patients who received allogeneic bone marrow grafts for autosomal recessive osteopetrosis in the period between 1976 and 1994 were analyzed retrospectively. Four patients received bone marrow transplants (BMT) without prior myeloablative conditioning; transient osteoclast function was demonstrated in one of them. Sixty-five patients received myeloablative pretreatment. Recipients of a genotypically human leukocyte antigen (HLA)- identical BMT had an actuarial probability for 5-year survival, with osteoclast function, of 79%; recipients of a phenotypically HLA-identical bone marrow graft from a related or unrelated donor, or one HLA-mismatched graft from a related donor, had an actuarial probability for 5-year survival, with osteoclast function, of 38%; patients who received a graft from an HLA-haplotype mismatched related donor had a probability for 5-year survival of only 13%. The main problems in haplotype-nonidentical BMT were graft failure and BMT-related complications such as sepsis, bleeding, and interstitial pneumonia. Osteoclast function developed in all patients with full engraftment. Recovery of osteoclast function was associated with severe hypercalcemia in 24% of the patients with engraftment, especially those older than 2 years of age. At the time of BMT, severe visual impairment was present in 35% of the patients; of the 15 patients who had visual impairment at the time that a successful BMT was performed, two had improvement after BMT (13%). Within the total group, one patient had neurode generation. Engraftment of healthy donor cells had no influence on the progression of that abnormality and BMT thus had no beneficial effect on this phenotype of osteopetrosis. In general, however, early BMT remains the only curative treatment for autosomal recessive osteopetrosis. (J PEDIATR 1994;125:896- 902)
Url:
DOI: 10.1016/S0022-3476(05)82004-9
Links to Exploration step
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<front><div type="abstract" xml:lang="en">Abstract: The outcomes of 69 patients who received allogeneic bone marrow grafts for autosomal recessive osteopetrosis in the period between 1976 and 1994 were analyzed retrospectively. Four patients received bone marrow transplants (BMT) without prior myeloablative conditioning; transient osteoclast function was demonstrated in one of them. Sixty-five patients received myeloablative pretreatment. Recipients of a genotypically human leukocyte antigen (HLA)- identical BMT had an actuarial probability for 5-year survival, with osteoclast function, of 79%; recipients of a phenotypically HLA-identical bone marrow graft from a related or unrelated donor, or one HLA-mismatched graft from a related donor, had an actuarial probability for 5-year survival, with osteoclast function, of 38%; patients who received a graft from an HLA-haplotype mismatched related donor had a probability for 5-year survival of only 13%. The main problems in haplotype-nonidentical BMT were graft failure and BMT-related complications such as sepsis, bleeding, and interstitial pneumonia. Osteoclast function developed in all patients with full engraftment. Recovery of osteoclast function was associated with severe hypercalcemia in 24% of the patients with engraftment, especially those older than 2 years of age. At the time of BMT, severe visual impairment was present in 35% of the patients; of the 15 patients who had visual impairment at the time that a successful BMT was performed, two had improvement after BMT (13%). Within the total group, one patient had neurode generation. Engraftment of healthy donor cells had no influence on the progression of that abnormality and BMT thus had no beneficial effect on this phenotype of osteopetrosis. In general, however, early BMT remains the only curative treatment for autosomal recessive osteopetrosis. (J PEDIATR 1994;125:896- 902)</div>
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<author><json:item><name>Egbert J.A. Gerritsen MD</name>
</json:item>
<json:item><name>Jaak M. Vossen MD, PhD</name>
</json:item>
<json:item><name>Anders Fasth MD, PhD</name>
</json:item>
<json:item><name>Wilhelm Friedrich MD, PhD</name>
</json:item>
<json:item><name>Gareth Morgan MD</name>
</json:item>
<json:item><name>Andrew Padmos MD</name>
</json:item>
<json:item><name>Ashok Vellodi MD, PhD</name>
</json:item>
<json:item><name>Oscar Porras MD, PhD</name>
</json:item>
<json:item><name>Ann O'Meara MD</name>
</json:item>
<json:item><name>Fulvio Porta MD</name>
</json:item>
<json:item><name>Pierre Bordigoni MD</name>
</json:item>
<json:item><name>Andrew Cant MD</name>
</json:item>
<json:item><name>Jo Hermans PhD</name>
</json:item>
<json:item><name>Claude Griscelli MD, PhD</name>
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<json:item><name>Alain Fischer MD, PhD</name>
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<abstract>Abstract: The outcomes of 69 patients who received allogeneic bone marrow grafts for autosomal recessive osteopetrosis in the period between 1976 and 1994 were analyzed retrospectively. Four patients received bone marrow transplants (BMT) without prior myeloablative conditioning; transient osteoclast function was demonstrated in one of them. Sixty-five patients received myeloablative pretreatment. Recipients of a genotypically human leukocyte antigen (HLA)- identical BMT had an actuarial probability for 5-year survival, with osteoclast function, of 79%; recipients of a phenotypically HLA-identical bone marrow graft from a related or unrelated donor, or one HLA-mismatched graft from a related donor, had an actuarial probability for 5-year survival, with osteoclast function, of 38%; patients who received a graft from an HLA-haplotype mismatched related donor had a probability for 5-year survival of only 13%. The main problems in haplotype-nonidentical BMT were graft failure and BMT-related complications such as sepsis, bleeding, and interstitial pneumonia. Osteoclast function developed in all patients with full engraftment. Recovery of osteoclast function was associated with severe hypercalcemia in 24% of the patients with engraftment, especially those older than 2 years of age. At the time of BMT, severe visual impairment was present in 35% of the patients; of the 15 patients who had visual impairment at the time that a successful BMT was performed, two had improvement after BMT (13%). Within the total group, one patient had neurode generation. Engraftment of healthy donor cells had no influence on the progression of that abnormality and BMT thus had no beneficial effect on this phenotype of osteopetrosis. In general, however, early BMT remains the only curative treatment for autosomal recessive osteopetrosis. (J PEDIATR 1994;125:896- 902)</abstract>
<pmid><json:string>7996361</json:string>
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<corporate><json:item><name>Participating centers are listed after the text.</name>
</json:item>
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<serie><title>The metabolic basis of inherited disease II</title>
<language><json:string>unknown</json:string>
</language>
<pages><first>2857</first>
<last>2866</last>
</pages>
</serie>
<copyrightDate>1994</copyrightDate>
<doi><json:string>10.1016/S0022-3476(05)82004-9</json:string>
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<availability><licence><p>©1994 Mosby, Inc.</p>
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<note>From the Department of Pediatrics and Medical Statistics, University Hospital, Leiden, The Netherlands; Department of Pediatrics, East Hospital, Göteborg, Sweden; University Children's Hospital, Ulm, Germany; Hospital for Sick Children, Institute of Child Health, and Westminster Children's Hospital, London, and Department of Pediatrics, General Hospital, Newcastle, United Kingdom; Department of Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; National Children's Hospital, San José, Costa Rica; Our Lady's Hospital for Sick Children, Dublin, Ireland; Department of Pediatrics, University Hospital, Brescia, Italy; Children's Hospital, Nancy, and the Department of Immunology and Hematology, Hôpital Necker Enfants Malades, Paris, France.</note>
<note>Reprint requests: Egbert J.A. Gerritsen, MD, Department of Paediatrics, Leiden University Hospital, PO Box 9600, 2300 RC Leiden, The Netherlands.</note>
<note>0022-3476/94/$3.00 + 0 9/20/59280</note>
<note type="content">Table I: Engraftment, osteoclast function, and severe hypercalcemia after BMT</note>
<note type="content">Table II: Main causes of death in patients after BMT</note>
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<author xml:id="author-0000"><persName><forename type="first">Egbert J.A.</forename>
<surname>Gerritsen</surname>
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<author xml:id="author-0001"><persName><forename type="first">Jaak M.</forename>
<surname>Vossen</surname>
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<author xml:id="author-0002"><persName><forename type="first">Anders</forename>
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<author xml:id="author-0003"><persName><forename type="first">Wilhelm</forename>
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<author xml:id="author-0004"><persName><forename type="first">Gareth</forename>
<surname>Morgan</surname>
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<author xml:id="author-0005"><persName><forename type="first">Andrew</forename>
<surname>Padmos</surname>
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<roleName type="degree">MD</roleName>
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<author xml:id="author-0006"><persName><forename type="first">Ashok</forename>
<surname>Vellodi</surname>
</persName>
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<author xml:id="author-0007"><persName><forename type="first">Oscar</forename>
<surname>Porras</surname>
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<author xml:id="author-0008"><persName><forename type="first">Ann</forename>
<surname>O'Meara</surname>
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<author xml:id="author-0009"><persName><forename type="first">Fulvio</forename>
<surname>Porta</surname>
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<author xml:id="author-0010"><persName><forename type="first">Pierre</forename>
<surname>Bordigoni</surname>
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<author xml:id="author-0011"><persName><forename type="first">Andrew</forename>
<surname>Cant</surname>
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<author xml:id="author-0012"><persName><forename type="first">Jo</forename>
<surname>Hermans</surname>
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<author xml:id="author-0013"><persName><forename type="first">Claude</forename>
<surname>Griscelli</surname>
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<roleName type="degree">MD, PhD</roleName>
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<author xml:id="author-0014"><persName><forename type="first">Alain</forename>
<surname>Fischer</surname>
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<abstract xml:lang="en"><p>Abstract: The outcomes of 69 patients who received allogeneic bone marrow grafts for autosomal recessive osteopetrosis in the period between 1976 and 1994 were analyzed retrospectively. Four patients received bone marrow transplants (BMT) without prior myeloablative conditioning; transient osteoclast function was demonstrated in one of them. Sixty-five patients received myeloablative pretreatment. Recipients of a genotypically human leukocyte antigen (HLA)- identical BMT had an actuarial probability for 5-year survival, with osteoclast function, of 79%; recipients of a phenotypically HLA-identical bone marrow graft from a related or unrelated donor, or one HLA-mismatched graft from a related donor, had an actuarial probability for 5-year survival, with osteoclast function, of 38%; patients who received a graft from an HLA-haplotype mismatched related donor had a probability for 5-year survival of only 13%. The main problems in haplotype-nonidentical BMT were graft failure and BMT-related complications such as sepsis, bleeding, and interstitial pneumonia. Osteoclast function developed in all patients with full engraftment. Recovery of osteoclast function was associated with severe hypercalcemia in 24% of the patients with engraftment, especially those older than 2 years of age. At the time of BMT, severe visual impairment was present in 35% of the patients; of the 15 patients who had visual impairment at the time that a successful BMT was performed, two had improvement after BMT (13%). Within the total group, one patient had neurode generation. Engraftment of healthy donor cells had no influence on the progression of that abnormality and BMT thus had no beneficial effect on this phenotype of osteopetrosis. In general, however, early BMT remains the only curative treatment for autosomal recessive osteopetrosis. (J PEDIATR 1994;125:896- 902)</p>
</abstract>
<textClass xml:lang="en"><keywords scheme="keyword"><list><head>Abbreviations</head>
<item><term>BMT</term>
<term>Bone marrow transplantation</term>
</item>
<item><term>HLA</term>
<term>Human leukocyte antigen</term>
</item>
</list>
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<ce:floats><ce:table id="tab1" colsep="0" rowsep="0" frame="topbot"><ce:label>Table I</ce:label>
<ce:caption><ce:simple-para>Engraftment, osteoclast function, and severe hypercalcemia after BMT</ce:simple-para>
</ce:caption>
<tgroup cols="5"><colspec colname="col1" colsep="0"></colspec>
<colspec colname="col2" colsep="0"></colspec>
<colspec colname="col3" colsep="0"></colspec>
<colspec colname="col4" colsep="0"></colspec>
<colspec colname="col5" colsep="0"></colspec>
<thead><row rowsep="1"><entry colsep="1">Donor</entry>
<entry align="center" colsep="1">No.</entry>
<entry align="center" colsep="1">Engraftment*</entry>
<entry align="center" colsep="1">Osteoclast function <ce:bold>†</ce:bold>
</entry>
<entry align="center"><ce:bold>Hyperalcemia</ce:bold>
</entry>
</row>
</thead>
<tbody><row rowsep="1"><entry colsep="1">Genotypically identical</entry>
<entry align="center" colsep="1">20</entry>
<entry align="center" colsep="1">19/19‡</entry>
<entry align="center" colsep="1">17/17‡</entry>
<entry align="center">5</entry>
</row>
<row rowsep="1"><entry colsep="1">0 or 1 (Nonidentical HLA antigen</entry>
<entry align="center" colsep="1">16</entry>
<entry align="center" colsep="1">12/16</entry>
<entry align="center" colsep="1">8/10</entry>
<entry align="center">1</entry>
</row>
<row rowsep="1"><entry colsep="1">2 or 3 (Nonidentical HLA antigens</entry>
<entry align="center" colsep="1"><ce:underline>33</ce:underline>
</entry>
<entry align="center" colsep="1">18/29</entry>
<entry align="center" colsep="1">12/14</entry>
<entry align="center">1</entry>
</row>
<row rowsep="1"><entry colsep="1">T<ce:small-caps>OTAL</ce:small-caps>
</entry>
<entry align="center" colsep="1">69</entry>
<entry align="center" colsep="1">49/64 (77%)</entry>
<entry align="center" colsep="1">37/41 (90% )</entry>
<entry align="center">7/25§</entry>
</row>
<row rowsep="1"><entry namest="col1" nameend="col5">*Engraftment until last follow-up after first (n = 42) or subsequent (n = 7) BMT. Not evaluable in five cases because of death within 3 weeks after BMT.</entry>
</row>
<row rowsep="1"><entry namest="col1" nameend="col5">†Osteoclast function is defined in the Methods section. In eight cases, osteoclast function was not evaluable because of death between 3 and 6 weeks after BMT.</entry>
</row>
<row rowsep="1"><entry namest="col1" nameend="col5">‡Ratio of number of patients to number of evaluable patients.</entry>
</row>
<row><entry namest="col1" nameend="col5"></entry>
</row>
</tbody>
</tgroup>
<ce:legend><ce:simple-para>§No information available in 12 cases.</ce:simple-para>
</ce:legend>
</ce:table>
<ce:table id="tab2" colsep="0" rowsep="0" frame="topbot"><ce:label>Table II</ce:label>
<ce:caption><ce:simple-para>Main causes of death in patients after BMT</ce:simple-para>
</ce:caption>
<tgroup cols="4"><colspec colname="col1" colsep="0"></colspec>
<colspec colname="col2" colsep="0"></colspec>
<colspec colname="col3" colsep="0"></colspec>
<colspec colname="col4" colsep="0"></colspec>
<thead><row rowsep="1"><entry colsep="1"></entry>
<entry namest="col2" nameend="col4" align="center"><ce:bold>Donor</ce:bold>
</entry>
</row>
<row rowsep="1"><entry colsep="1"></entry>
<entry align="center" colsep="1"></entry>
<entry namest="col3" nameend="col4" align="center">Nonidentical HLA antigens</entry>
</row>
<row rowsep="1"><entry colsep="1"></entry>
<entry align="center" colsep="1">Identical HLA (n = 20; BMTs = 23)</entry>
<entry align="center" colsep="1">0-1 antigen (n = 16; BMTs = 20)</entry>
<entry align="center">≥2 antigens (n = 33; BMTs = 40)</entry>
</row>
</thead>
<tbody><row rowsep="1"><entry colsep="1">Cause of death</entry>
<entry colsep="1"></entry>
<entry colsep="1"></entry>
<entry></entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
Septicemia</entry>
<entry align="center" colsep="1">1</entry>
<entry align="center" colsep="1">1</entry>
<entry align="center">12</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
Aplasia/hemorrhage</entry>
<entry align="center" colsep="1">0</entry>
<entry align="center" colsep="1">2</entry>
<entry align="center">6</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
Interstitial pneumonia</entry>
<entry align="center" colsep="1">0</entry>
<entry align="center" colsep="1">0</entry>
<entry align="center">4</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
Veno-occlusive disease</entry>
<entry align="center" colsep="1">0</entry>
<entry align="center" colsep="1">2</entry>
<entry align="center">1</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
GVHD</entry>
<entry align="center" colsep="1">1</entry>
<entry align="center" colsep="1">1</entry>
<entry align="center">0</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
Hypercalcemia</entry>
<entry align="center" colsep="1">1</entry>
<entry align="center" colsep="1">0</entry>
<entry align="center">0</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
Cerebral degeneration</entry>
<entry align="center" colsep="1">1</entry>
<entry align="center" colsep="1">0</entry>
<entry align="center">0</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
Anaphylactic shock</entry>
<entry align="center" colsep="1">1</entry>
<entry align="center" colsep="1">0</entry>
<entry align="center">0</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
Car accident</entry>
<entry align="center" colsep="1">0</entry>
<entry align="center" colsep="1">1</entry>
<entry align="center">0</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
Unknown cause</entry>
<entry align="center" colsep="1"><ce:underline>1</ce:underline>
</entry>
<entry align="center" colsep="1">1</entry>
<entry align="center">2</entry>
</row>
<row rowsep="1"><entry colsep="1"><ce:hsp sp="1.0"></ce:hsp>
T<ce:small-caps>OTAL DECEASED</ce:small-caps>
</entry>
<entry align="center" colsep="1">6 (4)</entry>
<entry align="center" colsep="1">8 (2)</entry>
<entry align="center">25 (6)</entry>
</row>
<row rowsep="1"><entry colsep="1">Total alive</entry>
<entry align="center" colsep="1">14 (13)</entry>
<entry align="center" colsep="1">8 (6)</entry>
<entry align="center">8 (6)</entry>
</row>
<row rowsep="1"><entry namest="col1" nameend="col4">Figures in parentheses indicate the number of patients with osteoclast function after BMT.</entry>
</row>
<row><entry namest="col1" nameend="col4"></entry>
</row>
</tbody>
</tgroup>
<ce:legend><ce:simple-para><ce:italic>n</ce:italic>
, Number of patients; <ce:italic>GVHD</ce:italic>
, graft-versus-host disease.</ce:simple-para>
</ce:legend>
</ce:table>
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<head><ce:article-footnote><ce:label>☆</ce:label>
<ce:note-para>From the Department of Pediatrics and Medical Statistics, University Hospital, Leiden, The Netherlands; Department of Pediatrics, East Hospital, Göteborg, Sweden; University Children's Hospital, Ulm, Germany; Hospital for Sick Children, Institute of Child Health, and Westminster Children's Hospital, London, and Department of Pediatrics, General Hospital, Newcastle, United Kingdom; Department of Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; National Children's Hospital, San José, Costa Rica; Our Lady's Hospital for Sick Children, Dublin, Ireland; Department of Pediatrics, University Hospital, Brescia, Italy; Children's Hospital, Nancy, and the Department of Immunology and Hematology, Hôpital Necker Enfants Malades, Paris, France.</ce:note-para>
</ce:article-footnote>
<ce:article-footnote><ce:label>☆☆</ce:label>
<ce:note-para>Reprint requests: Egbert J.A. Gerritsen, MD, Department of Paediatrics, Leiden University Hospital, PO Box 9600, 2300 RC Leiden, The Netherlands.</ce:note-para>
</ce:article-footnote>
<ce:article-footnote><ce:label>★</ce:label>
<ce:note-para>0022-3476/94/$3.00 + 0 <ce:bold>9/20/59280</ce:bold>
</ce:note-para>
</ce:article-footnote>
<ce:title>Bone marrow transplantation for autosomal recessive osteopetrosis A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group</ce:title>
<ce:author-group><ce:author><ce:given-name>Egbert J.A.</ce:given-name>
<ce:surname>Gerritsen</ce:surname>
<ce:degrees>MD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Jaak M.</ce:given-name>
<ce:surname>Vossen</ce:surname>
<ce:degrees>MD, PhD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Anders</ce:given-name>
<ce:surname>Fasth</ce:surname>
<ce:degrees>MD, PhD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Wilhelm</ce:given-name>
<ce:surname>Friedrich</ce:surname>
<ce:degrees>MD, PhD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Gareth</ce:given-name>
<ce:surname>Morgan</ce:surname>
<ce:degrees>MD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Andrew</ce:given-name>
<ce:surname>Padmos</ce:surname>
<ce:degrees>MD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Ashok</ce:given-name>
<ce:surname>Vellodi</ce:surname>
<ce:degrees>MD, PhD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Oscar</ce:given-name>
<ce:surname>Porras</ce:surname>
<ce:degrees>MD, PhD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Ann</ce:given-name>
<ce:surname>O'Meara</ce:surname>
<ce:degrees>MD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Fulvio</ce:given-name>
<ce:surname>Porta</ce:surname>
<ce:degrees>MD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Pierre</ce:given-name>
<ce:surname>Bordigoni</ce:surname>
<ce:degrees>MD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Andrew</ce:given-name>
<ce:surname>Cant</ce:surname>
<ce:degrees>MD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Jo</ce:given-name>
<ce:surname>Hermans</ce:surname>
<ce:degrees>PhD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Claude</ce:given-name>
<ce:surname>Griscelli</ce:surname>
<ce:degrees>MD, PhD</ce:degrees>
</ce:author>
<ce:author><ce:given-name>Alain</ce:given-name>
<ce:surname>Fischer</ce:surname>
<ce:degrees>MD, PhD</ce:degrees>
</ce:author>
<ce:collaboration><ce:text>Participating centers are listed after the text.</ce:text>
</ce:collaboration>
</ce:author-group>
<ce:date-received day="13" month="10" year="1993"></ce:date-received>
<ce:date-accepted day="22" month="7" year="1994"></ce:date-accepted>
<ce:abstract><ce:section-title>Abstract</ce:section-title>
<ce:abstract-sec><ce:simple-para>The outcomes of 69 patients who received allogeneic bone marrow grafts for autosomal recessive osteopetrosis in the period between 1976 and 1994 were analyzed retrospectively. Four patients received bone marrow transplants (BMT) without prior myeloablative conditioning; transient osteoclast function was demonstrated in one of them. Sixty-five patients received myeloablative pretreatment. Recipients of a genotypically human leukocyte antigen (HLA)- identical BMT had an actuarial probability for 5-year survival, with osteoclast function, of 79%; recipients of a phenotypically HLA-identical bone marrow graft from a related or unrelated donor, or one HLA-mismatched graft from a related donor, had an actuarial probability for 5-year survival, with osteoclast function, of 38%; patients who received a graft from an HLA-haplotype mismatched related donor had a probability for 5-year survival of only 13%. The main problems in haplotype-nonidentical BMT were graft failure and BMT-related complications such as sepsis, bleeding, and interstitial pneumonia. Osteoclast function developed in all patients with full engraftment. Recovery of osteoclast function was associated with severe hypercalcemia in 24% of the patients with engraftment, especially those older than 2 years of age. At the time of BMT, severe visual impairment was present in 35% of the patients; of the 15 patients who had visual impairment at the time that a successful BMT was performed, two had improvement after BMT (13%). Within the total group, one patient had neurode generation. Engraftment of healthy donor cells had no influence on the progression of that abnormality and BMT thus had no beneficial effect on this phenotype of osteopetrosis. In general, however, early BMT remains the only curative treatment for autosomal recessive osteopetrosis. (J P<ce:small-caps>EDIATR</ce:small-caps>
1994;125:896- 902)</ce:simple-para>
</ce:abstract-sec>
</ce:abstract>
<ce:keywords class="abr"><ce:section-title>Abbreviations</ce:section-title>
<ce:keyword><ce:text>BMT
</ce:text>
<ce:keyword><ce:text>Bone marrow transplantation</ce:text>
</ce:keyword>
</ce:keyword>
<ce:keyword><ce:text>HLA
</ce:text>
<ce:keyword><ce:text>Human leukocyte antigen</ce:text>
</ce:keyword>
</ce:keyword>
</ce:keywords>
</head>
<body><ce:sections><ce:para>Juvenile, autosomal-recessive, malignant osteopetrosis is a very rare disease characterized by severe symptoms of abnormal bone remodeling, deficient hematopoiesis, and neurologic impairment with onset during infancy. The cause is defective osteoclastic bone resorption leading to increased skeletal mass and bone density. Except for a small subgroup with carbonic anhydrase II deficiency,<ce:cross-refs refid="bib1 bib2"><ce:sup>1, 2</ce:sup>
</ce:cross-refs>
the cause is unknown. Infants and children affected by osteopetrosis usually die before the age of 5 years.<ce:cross-refs refid="bib3 bib4 bib5"><ce:sup>3-5</ce:sup>
</ce:cross-refs>
Since 1977, after pioneering animal experiments,<ce:cross-ref refid="bib6"><ce:sup>6</ce:sup>
</ce:cross-ref>
allogeneic bone marrow transplantation has been applied successfully for the correction of juvenile osteopetrosis.<ce:cross-refs refid="bib7 bib8"><ce:sup>7, 8</ce:sup>
</ce:cross-refs>
Detailed reports have been published on 14 cases.<ce:cross-refs refid="bib7 bib8 bib9 bib10 bib11 bib12 bib13 bib14 bib15 bib16 bib17 bib18"><ce:sup>7-18</ce:sup>
</ce:cross-refs>
We report the results of BMT in 69 patients treated in Europe, Saudi Arabia, or Costa Rica.</ce:para>
<ce:section><ce:section-title>METHODS</ce:section-title>
<ce:para>Between 1976 and 1993, 69 patients received a total of 83 BMTs for juvenile osteopetrosis in 17 cooperating centers in Europe, Costa Rica, and Saudi Arabia. Data on all BMTs done during this period were collected from members of the Working Party on Congenital Diseases of the European Group for BMT. A retrospective analysis was made of data available up to January 1994, giving a minimum follow-up period of 2 months, and a maximum of ten years. Data for eight patients were reported previously.<ce:cross-refs refid="bib7 bib9 bib11 bib15 bib16 bib18"><ce:sup>7, 9, 11, 15, 16, 18</ce:sup>
</ce:cross-refs>
Median age at transplantation was 3 months (range, 1 to 81 months). Clinical findings at BMT were as follows: thrombocytes, <50 × 10<ce:sup>9</ce:sup>
/L in 35%, >10 erythrocyte or thrombocyte transfusions in 10%, unilateral or bilateral optical atrophy in 60%, and severe visual impairment in 35% of the patients.</ce:para>
<ce:para>The compatibility of human leukocyte antigens between donor and recipient was determined by serotyping and by mixed leukocyte reactivity. The patients were divided into four groups based on HLA disparity with the bone marrow donor: a sibling donor with HLA-identical genotype (n = 20), a related donor phenotypically HLA-identical or with one nonidentical HLA antigen (no antigens or only one mismatched HLA antigen) (n = 9), an unrelated donor with HLA-identical phenotype (n = 7), or a related donor with two or more nonidentical HLA antigens (n = 33).</ce:para>
<ce:para>Four patients received BMT without preceding myeloablative conditioning. All others were pretreated with regimens according to protocols of the Working Party on Congenital Diseases of the European Group for BMT. The majority of patients received busulphan, 4 mg/kg per day for 4 days, and cyclophosphamide, 50 mg/kg per day for 4 days. To improve engraftment, a number of patients with an HLA antigen-disparate donor received additional pretreatment, that is, anti-leukocyte functional antigen type 1 monoclonal antibodies,<ce:cross-ref refid="bib19"><ce:sup>19</ce:sup>
</ce:cross-ref>
0.2 mg/kg per day for 10 days (since 1985; n = 30), and etoposide, 300 mg/m<ce:sup>2</ce:sup>
per day for 3 days (since 1988; n = 15). The median cell dose of the bone marrow graft was 6.0 × 10<ce:sup>8</ce:sup>
nucleated cells per kilogram body weight of the recipient (range, 1.0 to 34.0 × 10<ce:sup>8</ce:sup>
cells per kilogram body weight). For prevention of graft-versus-host disease, 35 patients received a bone marrow graft depleted of ≥2 log T-cells by E-rosetting<ce:cross-ref refid="bib20"><ce:sup>20</ce:sup>
</ce:cross-ref>
(n = 9), Campath-I IgM monoclonal antibodies (kindly provided by Dr. G. Hale, Department of Pathology, Cambridge, United Kingdom) plus complement<ce:cross-ref refid="bib21"><ce:sup>21</ce:sup>
</ce:cross-ref>
(n = 22), or other antibodies (n = 4).</ce:para>
<ce:para>To prevent infections, we treated 80% of the patients in the protective environment of a high-efficiency particulate-air-filtered isolation facility and supplied antimicrobial drugs to suppress the gastrointestinal microflora. In addition, 70% received intravenous immune globulin therapy, and 80% received trimethoprim-sulfamethoxazole prophylaxis after BMT. Chimerism was studied by karyotyping, HLA typing, and restriction fragment length polymorphism with minisatellite probes.<ce:cross-ref refid="bib22"><ce:sup>22</ce:sup>
</ce:cross-ref>
</ce:para>
<ce:para>Disease-free survival was defined as survival with osteoclast function, reflected by hypercalcemia, hypercalciuria, clearing of bones as shown by radiography, or demonstration of functioning osteoclasts in a bone biopsy specimen. Improvement of peripheral blood values and return of the size of liver and spleen to normal were also regarded as markers of recovering osteoclast function. Hypercalcemia was considered severe when the serum calcium level was ≥2.8 mmol/L (11.5 mg/dl). Impairment of vision was defined as previously described.<ce:cross-ref refid="bib3"><ce:sup>3</ce:sup>
</ce:cross-ref>
</ce:para>
<ce:para>The disease-free survival analysis was calculated according to the method of Kaplan and Meier<ce:cross-ref refid="bib23"><ce:sup>23</ce:sup>
</ce:cross-ref>
and comparison of survival distribution by the log rank test.</ce:para>
</ce:section>
<ce:section><ce:section-title>RESULTS</ce:section-title>
<ce:section><ce:section-title>Engraftment</ce:section-title>
<ce:para>In all evaluable recipients of an HLA-identical bone marrow graft (n = 19), donor-derived hematopoiesis was documented after the first BMT (<ce:cross-ref refid="tab1">Table I</ce:cross-ref>
), except for one child who received a T-cell-depleted graft. After retransplantation with unmodified bone marrow, prompt engraftment was obtained. Engraftment was sustained in all cases except for one patient with carbonic anhydrase deficiency, who had only transient engraftment after BMT without preceding myeloablation.<ce:cross-ref refid="bib7"><ce:sup>7</ce:sup>
</ce:cross-ref>
The BMT was successful in six of nine recipients of grafts with no or only one disparate HLA antigen. In those with a phenotypically HLA-identical unrelated donor (n = 7), engraftment occurred in six patients, in two of them after retransplantation. In these two subgroups the numbers were too small to demonstrate an influence of either T-cell depletion of the graft (n = 7) or the use of anti-leukocyte functional antigen type 1 in the recipient (n = 7).</ce:para>
<ce:para><ce:float-anchor refid="tab1"></ce:float-anchor>
</ce:para>
<ce:para>In the 33 patients with a BMT from a related donor with two or more disparate HLA antigens, engraftment did not occur in three patients who were treated before 1980, none of whom received myeloablative conditioning. In patients who received a transplant after intensive pretreatment, engraftment after the first BMT occurred in only 13 (50%) of 26 evaluable patients. In one case engraftment was transient; however, a subsequent BMT, resulted in sustained engraftment. Of 13 patients with unsuccessful grafts, six received a second transplant, five of which were successful. Univariate analyses of this small and heterogeneous group of patients showed no influence of the use of either anti-leukocyte functional antigen type 1 (n = 21) or etoposide (n = 10) in the recipient, or showed an influence of the pretreatment of the graft.</ce:para>
</ce:section>
<ce:section><ce:section-title>Osteoclast function</ce:section-title>
<ce:para>Persistent osteoclast function was documented in 37 (90%) of 41 evaluable cases (<ce:cross-ref refid="tab1">Table I</ce:cross-ref>
); in the four other patients chimeric studies demonstrated only partial engraftment. As a result of osteoclast engraftment, severe hypercalcemia developed in 7 (24%) of 29 evaluable graft recipients and was fatal in one. Of those with severe hypercalcemia, six of seven underwent BMT after the age of 2 years; in contrast, all except one child without severe hypercalcemia had a graft before the age of 2 years.</ce:para>
</ce:section>
<ce:section><ce:section-title>Survival</ce:section-title>
<ce:para>At last follow-up, 39 of 69 patients had died (<ce:cross-ref refid="tab2">Table II</ce:cross-ref>
). Graft failure and toxic effects of the myeloablative conditioning were the main causes of death, especially in HLA-nonidentical BMT. Two patients died of graft-versus-host disease and one of progressive central nervous system degeneration despite full engraftment and normalization of bone structure as shown by radiography and microscopic study of a biopsy specimen.</ce:para>
<ce:para><ce:float-anchor refid="tab2"></ce:float-anchor>
</ce:para>
<ce:para>Osteopetrosis persisted in 5 of the 30 living children. Four had graft failure and partial autologous recovery, and one had engraftment of only T cells. The actuarial probability for 5-year survival with osteoclast function is depicted in the <ce:cross-ref refid="fig1">Figure</ce:cross-ref>
. The difference between the outcome of BMT with a genotypically HLA-identical donor and a donor with no or only one disparate HLA, either related or unrelated, was significant (<ce:italic>p</ce:italic>
= 0.03), as was the difference between BMT with a donor with no or only one disparate antigen and a donor with two or more disparate antigens (<ce:italic>p</ce:italic>
= 0.03). In all children alive with osteoclast function, the hematologic values became normal and hepatosplenomegaly disappeared. In 22 children, the radiologic appearance of the bone was normal, and in two other children with a short follow-up of <4 months, radiograms showed some bone clearing. In one child, clinical and radiologic findings are improving 24 months after BMT, in the absence of detectable donor-derived peripheral blood cells.</ce:para>
<ce:para><ce:display><ce:figure id="fig1"><ce:caption><ce:simple-para><ce:bold>Figure</ce:bold>
. Survival with osteoclast function (<ce:italic>DFS</ce:italic>
; disease-free survival) in 65 patients with juvenile osteopetrosis after myeloablative conditioning and BMT. There were 19 patients with a genotypically HLA-identical sibling donor <ce:italic>(identical)</ce:italic>
. Nine of the patients received a BMT from a related donor who was phenotypically HLA identical or with one nonidentical HLA antigen, and seven of the patients received a BMT from an unrelated phenotypically HLA-identical donor <ce:italic>(nonidentical 0-1)</ce:italic>
. Thirty patients received a transplant from a related donor with two or more nonidentical HLA antigens <ce:italic>(nonidentical</ce:italic>
≥2).</ce:simple-para>
</ce:caption>
<ce:link locator="gr1"></ce:link>
</ce:figure>
</ce:display>
</ce:para>
<ce:para>Among the 25 survivors with osteoclast function after BMT, 8 were already blind or had severe visual impairment before BMT; the others had either normal vision (n = 8) or mildly impaired vision (n = 8) at that time (the visual capacity of one child was unknown). Vision improved after BMT in 2 (13%) of 16 patients, and remained unchanged in the other 14.</ce:para>
<ce:para>Growth measurements were available for 19 of the 25 survivors with osteoclast function after BMT: 5 children had catch-up growth, in 13 growth continued at the height percentile present at the time of BMT, and in 1 child growth velocity decreased after BMT. The last patient had cytomegalovirus meningoencephalitis after BMT that had resulted in spastic diplegia. Although the majority of children were healthy and attended regular school, at least seven children (29%) needed special education because of visual disability and one patient, already mentioned, had spastic diplegia.</ce:para>
</ce:section>
</ce:section>
<ce:section><ce:section-title>DISCUSSION</ce:section-title>
<ce:para>Autosomal recessive osteopetrosis can be very variable in its clinical expression.<ce:cross-ref refid="bib5"><ce:sup>5</ce:sup>
</ce:cross-ref>
The basic defect in juvenile osteopetrosis is unknown except for a small subgroup with carbonic anhydrase deficiency.<ce:cross-refs refid="bib1 bib2"><ce:sup>1, 2</ce:sup>
</ce:cross-refs>
In osteopetrotic <ce:italic>(op/op)</ce:italic>
mutant mice, a defect in the gene encoding for macrophage colony-stimulating factor has been reported<ce:cross-ref refid="bib24"><ce:sup>24</ce:sup>
</ce:cross-ref>
; the disease cannot be corrected by BMT but resolves after treatment with macrophage colony-stimulating factor.<ce:cross-ref refid="bib25"><ce:sup>25</ce:sup>
</ce:cross-ref>
This defect has not yet been demonstrated in human autosomal recessive osteopetrosis,<ce:cross-refs refid="bib26 bib27"><ce:sup>26, 27</ce:sup>
</ce:cross-refs>
consistent with the demonstration of osteoclast function in all BMT recipients who had complete donor-derived hematopoiesis. Recently the presence of osteopetrosis was found in <ce:italic>SRC</ce:italic>
- and <ce:italic>C-Fos</ce:italic>
knockout mice.<ce:cross-refs refid="bib28 bib29 bib30"><ce:sup>28-30</ce:sup>
</ce:cross-refs>
In the small number of osteopetrotic children tested to date, the SRC gene appeared to be normal.<ce:cross-ref refid="bib31"><ce:sup>31</ce:sup>
</ce:cross-ref>
Results of investigation into the C-Fos gene in human osteopetrosis have not been published.</ce:para>
<ce:para>Medical treatment of children with osteopetrosis has included use of corticosteroids, <ce:cross-refs refid="bib32 bib33"><ce:sup>32, 33</ce:sup>
</ce:cross-refs>
parathormone,<ce:cross-refs refid="bib34 bib35"><ce:sup>34, 35</ce:sup>
</ce:cross-refs>
high doses of calcitriol,<ce:cross-refs refid="bib36 bib37 bib38"><ce:sup>36-38</ce:sup>
</ce:cross-refs>
interferon-γ,<ce:cross-refs refid="bib38 bib39"><ce:sup>38, 39</ce:sup>
</ce:cross-refs>
or macrophage colony-stimulating factor.<ce:cross-ref refid="bib40"><ce:sup>40</ce:sup>
</ce:cross-ref>
The results in small groups of patients have been either variable or conflicting<ce:cross-refs refid="bib36 bib37 bib38 bib39"><ce:sup>36-39</ce:sup>
</ce:cross-refs>
and mostly transient. In addition to medical treatment, surgical decompression of the optic nerve(s) can be performed.<ce:cross-refs refid="bib41 bib42"><ce:sup>41, 42</ce:sup>
</ce:cross-refs>
Although medical treatment may ameliorate the course of the disease temporarily, BMT remains the only possibility of restoring osteoclast function permanently.</ce:para>
<ce:para>Although BMT is the treatment of choice because it can correct the disease, the outcome is largely dependent on the availability of a genotypically HLA-identical bone marrow donor. We demonstrated in our retrospective evaluation that sustained engraftment of marrow cells from such a donor occurred in all cases, except in one who was not given myeloablative conditioning and in another who received a T-cell-depleted bone marrow graft. The observation of graft failure after T-cell-depleted BMT for osteopetrosis is in accordance with the observation of increased risk of graft failure after T-cell-depleted BMT for other diseases.<ce:cross-refs refid="bib43 bib44"><ce:sup>43, 44</ce:sup>
</ce:cross-refs>
The T-cell depletion of an HLA-identical sibling graft thus seems contraindicated.</ce:para>
<ce:para>Attention should be paid to a possible post-BMT complication specifically associated with osteopetrosis: severe, sometimes persistent hypercalcaemia. Treatment of hypercalcemia is indicated when the serum calcium concentration exceeds 2.8 mmol/L (11.5 mg/dl). This is done by hyperhydration, use of diuretics or corticosteroids, calcitonin infusion, or biphosphonate treatment.<ce:cross-ref refid="bib16"><ce:sup>16</ce:sup>
</ce:cross-ref>
</ce:para>
<ce:para>Visual impairment present at the time of BMT was irreversible in 87% of the patients despite successful BMT and bone clearing, in contrast to findings reported by others.<ce:cross-refs refid="bib10 bib12"><ce:sup>10, 12</ce:sup>
</ce:cross-refs>
Possibly the latter patients had a milder course of their disease. This observation indicates the desirability of performing a BMT as early as possible after the diagnosis has been made, preferably before the age of 3 months.<ce:cross-ref refid="bib5"><ce:sup>5</ce:sup>
</ce:cross-ref>
After successful BMT, either catch-up growth or growth within the percentile present at the time of BMT was observed. Development was normal in long-term survivors with osteoclast function. These children attended regular schools except for those with persistent severe visual impairment and one child with spastic diplegia as a result of viral encephalitis.</ce:para>
<ce:para>One graft recipient died 4 months after successful BMT and bone clearing, as a result of progressive neurodegeneration. An older brother, who did not undergo BMT, also died at about the same age of progressive neurodegeneration. It is possible that these siblings of a consanguineous marriage have a phenotype of juvenile osteopetrosis associated with retinal degeneration or generalized neurodegeneration, an association described in five other patients.<ce:cross-refs refid="bib45 bib46 bib47 bib48"><ce:sup>45-48</ce:sup>
</ce:cross-refs>
When such an association of abnormalities can be identified in a young infant, BMT is contraindicated because it has no effect on the progression of the neurodegeneration.</ce:para>
<ce:para>In two patients with a follow-up of at least 2 years, bone clearing was documented on x-ray studies, but peripheral mononuclear cells of recipient origin remained, as demonstrated by karyotyping. A possible explanation for this observation is either the development of a split engraftment of osteoclasts or a spontaneous improvement of recipient osteoclast function, as has been documented rarely during the natural course of the disease.<ce:cross-refs refid="bib5 bib49"><ce:sup>5, 49</ce:sup>
</ce:cross-refs>
In such a case it may be of scientific importance to identify the origin of osteoclasts in situ.<ce:cross-ref refid="bib50"><ce:sup>50</ce:sup>
</ce:cross-ref>
</ce:para>
<ce:para>The results of BMT with an HLA-disparate donor were significantly worse than after HLA-identical BMT, especially in the group of patients with a donor with two or more disparate HLA antigens. A search for a related donor with one disparate HLA antigen in the extended family or for a phenotypically HLA-identical unrelated donor in international bone marrow banks is therefore indicated.<ce:cross-refs refid="bib51 bib52 bib53 bib54"><ce:sup>51-54</ce:sup>
</ce:cross-refs>
Searching in donor banks usually takes approximately 6 months before an HLA-matched unrelated BMT can be performed.<ce:cross-ref refid="bib53"><ce:sup>53</ce:sup>
</ce:cross-ref>
During the waiting period before BMT, surgical decompression of the optic nerve may be considered and medical treatment for the temporary amelioration of osteoclast function may be attempted.</ce:para>
<ce:para>At present, the decision to perform an HLA-nonidentical BMT remains an ethical dilemma. However, without BMT, all children become progressively disabled and have little chance of long-term survival.<ce:cross-ref refid="bib5"><ce:sup>5</ce:sup>
</ce:cross-ref>
For infants with symptoms of rapidly progressive complications, such as the combined presence of visual and hematologic impairment,<ce:cross-ref refid="bib5"><ce:sup>5</ce:sup>
</ce:cross-ref>
immediate BMT with a closely matched, related donor remains the only curative approach. For patients with a relatively mild course, BMT can be postponed until an HLA-identical, unrelated donor has been found.</ce:para>
<ce:para>The following centers contributed to this study: Department of Pediatrics, University Hospital, Brescia, Italy (Dr. F. Porta); Our Lady's Hospital for Sick Children, Dublin, Ireland (Dr. A. O'Meara); Department of Hematology, San Martino Hospital, Genova, Italy (Dr. A. Bacigalupo); Royal Hospital for Sick Children, Glasgow, Scotland (Dr. B. Gibson); Department of Pediatrics, East Hospital, Göteborg, Sweden (Dr. A. Fasth); Department of Pediatrics, University Hospital, Leiden, The Netherlands (Dr. E. J. A. Gerritsen, Dr. J. Vossen); Hospital for Sick Children, London, United Kingdom, (Dr. R. Levinsky, Dr. G. Morgan); Westminster Children Hospital, London, United Kingdom, (Dr. A. Vellodi); Hôpital d'Enfants, Nancy, France (Dr. P. Bordigoni); Department of Pediatrics, General Hospital, Newcastle, United Kingdom (Dr. A. Cant); Department of Immunology and Hematology, Hôpital Necker Enfants Malades, Paris, France (Dr. A. Fischer, Dr. C. Griscelli); Hôpital St. Louis, Paris, France (Dr. E. Gluckman); Hôpital Debré, Paris, France (Dr. E. Vilmer); Clinica Pediatrica Pavia, Italy (Dr. F. Locatelli); Department of Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, (Dr. P. Ernst, Dr. A. Padmos); Department of Medicine, National Children's Hospital, San José, Costa Rica (Dr. O. Porras); and University Children's Hospital, Ulm, Germany, (Dr. W. Friedrich).</ce:para>
</ce:section>
</ce:sections>
</body>
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<mods version="3.6"><titleInfo lang="en"><title>Bone marrow transplantation for autosomal recessive osteopetrosis A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group</title>
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<titleInfo type="alternative" lang="en" contentType="CDATA"><title>Bone marrow transplantation for autosomal recessive osteopetrosis A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group</title>
</titleInfo>
<name type="corporate"><namePart>Participating centers are listed after the text.</namePart>
</name>
<name type="personal"><namePart type="given">Egbert J.A.</namePart>
<namePart type="family">Gerritsen</namePart>
<namePart type="termsOfAddress">MD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jaak M.</namePart>
<namePart type="family">Vossen</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Anders</namePart>
<namePart type="family">Fasth</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Wilhelm</namePart>
<namePart type="family">Friedrich</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Gareth</namePart>
<namePart type="family">Morgan</namePart>
<namePart type="termsOfAddress">MD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Andrew</namePart>
<namePart type="family">Padmos</namePart>
<namePart type="termsOfAddress">MD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ashok</namePart>
<namePart type="family">Vellodi</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Oscar</namePart>
<namePart type="family">Porras</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ann</namePart>
<namePart type="family">O'Meara</namePart>
<namePart type="termsOfAddress">MD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Fulvio</namePart>
<namePart type="family">Porta</namePart>
<namePart type="termsOfAddress">MD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Pierre</namePart>
<namePart type="family">Bordigoni</namePart>
<namePart type="termsOfAddress">MD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Andrew</namePart>
<namePart type="family">Cant</namePart>
<namePart type="termsOfAddress">MD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jo</namePart>
<namePart type="family">Hermans</namePart>
<namePart type="termsOfAddress">PhD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Claude</namePart>
<namePart type="family">Griscelli</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Alain</namePart>
<namePart type="family">Fischer</namePart>
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</name>
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<abstract lang="en">Abstract: The outcomes of 69 patients who received allogeneic bone marrow grafts for autosomal recessive osteopetrosis in the period between 1976 and 1994 were analyzed retrospectively. Four patients received bone marrow transplants (BMT) without prior myeloablative conditioning; transient osteoclast function was demonstrated in one of them. Sixty-five patients received myeloablative pretreatment. Recipients of a genotypically human leukocyte antigen (HLA)- identical BMT had an actuarial probability for 5-year survival, with osteoclast function, of 79%; recipients of a phenotypically HLA-identical bone marrow graft from a related or unrelated donor, or one HLA-mismatched graft from a related donor, had an actuarial probability for 5-year survival, with osteoclast function, of 38%; patients who received a graft from an HLA-haplotype mismatched related donor had a probability for 5-year survival of only 13%. The main problems in haplotype-nonidentical BMT were graft failure and BMT-related complications such as sepsis, bleeding, and interstitial pneumonia. Osteoclast function developed in all patients with full engraftment. Recovery of osteoclast function was associated with severe hypercalcemia in 24% of the patients with engraftment, especially those older than 2 years of age. At the time of BMT, severe visual impairment was present in 35% of the patients; of the 15 patients who had visual impairment at the time that a successful BMT was performed, two had improvement after BMT (13%). Within the total group, one patient had neurode generation. Engraftment of healthy donor cells had no influence on the progression of that abnormality and BMT thus had no beneficial effect on this phenotype of osteopetrosis. In general, however, early BMT remains the only curative treatment for autosomal recessive osteopetrosis. (J PEDIATR 1994;125:896- 902)</abstract>
<note>From the Department of Pediatrics and Medical Statistics, University Hospital, Leiden, The Netherlands; Department of Pediatrics, East Hospital, Göteborg, Sweden; University Children's Hospital, Ulm, Germany; Hospital for Sick Children, Institute of Child Health, and Westminster Children's Hospital, London, and Department of Pediatrics, General Hospital, Newcastle, United Kingdom; Department of Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; National Children's Hospital, San José, Costa Rica; Our Lady's Hospital for Sick Children, Dublin, Ireland; Department of Pediatrics, University Hospital, Brescia, Italy; Children's Hospital, Nancy, and the Department of Immunology and Hematology, Hôpital Necker Enfants Malades, Paris, France.</note>
<note>Reprint requests: Egbert J.A. Gerritsen, MD, Department of Paediatrics, Leiden University Hospital, PO Box 9600, 2300 RC Leiden, The Netherlands.</note>
<note>0022-3476/94/$3.00 + 0 9/20/59280</note>
<note type="content">Table I: Engraftment, osteoclast function, and severe hypercalcemia after BMT</note>
<note type="content">Table II: Main causes of death in patients after BMT</note>
<subject lang="en"><genre>Abbreviations</genre>
<topic>BMT : Bone marrow transplantation</topic>
<topic>HLA : Human leukocyte antigen</topic>
</subject>
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HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 000628 | SxmlIndent | more
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{{Explor lien |wiki= Wicri/Lorraine |area= InforLorV4 |flux= Istex |étape= Corpus |type= RBID |clé= ISTEX:1BEF1165D7240D00ED02050FC64A183A3FD45229 |texte= Bone marrow transplantation for autosomal recessive osteopetrosis A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group }}
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