Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Identifieur interne : 008C03 ( Main/Exploration ); précédent : 008C02; suivant : 008C04Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Auteurs : T. M. Cox [Royaume-Uni] ; J. M. F. G. Aerts [Pays-Bas] ; N. Belmatoug [France] ; M. D. Cappellini [Italie] ; S. Vom Dahl [Allemagne] ; J. Goldblatt [Australie] ; G. A. Grabowski [États-Unis] ; C. E. M. Hollak [Pays-Bas] ; P. Hwu ; M. Maas ; A. M. Martins ; P. K. Mistry ; G. M. Pastores ; A. Tylki-Szymanska ; J. Yee ; N. WeinrebSource :
- Journal of inherited metabolic disease [ 0141-8955 ] ; 2008.
Descripteurs français
- Pascal (Inist)
- Sphingolipidose héréditaire de Gaucher, Traitement, Gestion, Splénectomie, Conduite à tenir, Référence, Ostéopathie, Gestation, Femelle, Monitorage, Homme, Femme, Bisphosphonates, Utilisation, Marqueur biologique, Pathologie du système ostéoarticulaire, Surveillance, Génétique, Maladie métabolique, Nutrition, Maladie héréditaire, Lipide, Antiostéoporotique.
- Wicri :
English descriptors
- KwdEn :
- Antiosteoporotic, Biological marker, Bisphosphonates, Bone disease, Clinical management, Diseases of the osteoarticular system, Female, Gaucher disease, Genetic disease, Genetics, Human, Lipids, Management, Metabolic diseases, Monitoring, Nutrition, Pregnancy, Reference, Splenectomy, Surveillance, Treatment, Use, Woman.
Abstract
Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly ultra-orphan agent, a systematic disease management approach has been proposed by an international panel; this includes the development, by consensus, of achievable treatment goals. Here we critically review these goals and monitoring guidelines and incorporate emerging experience of the disease in the therapeutic era, as well as contemporary clinical research. This review makes recommendations related specifically to the management of pregnancy; the appropriate use of splenectomy and bisphosphonate treatment; the relevance of biochemical markers to disease monitoring; and the use of semiquantitative methods for assessing bone marrow infiltration. In addition, we identify key areas for development, including the requirement for a validated index of disease severity; the need to correlate widely used biomarkers with long-term disease outcomes, and the desirability of establishing agreed standards for monitoring of bone disease particularly in infants and children with Gaucher disease.
Affiliations:
- Allemagne, Australie, France, Italie, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Angleterre de l'Est, Hollande-Septentrionale, Lombardie, Ohio, Île-de-France
- Amsterdam, Cambridge, Milan, Paris
- Université d'Amsterdam, Université de Cambridge
Links toward previous steps (curation, corpus...)
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Le document en format XML
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M." last="Cox">T. M. Cox</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Medicine, University of Cambridge, Addenbrooke's NHS Foundation Hospitals Trust</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>1 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge</wicri:noRegion><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Aerts, J M F G" sort="Aerts, J M F G" uniqKey="Aerts J" first="J. M. F. G." last="Aerts">J. M. F. G. Aerts</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>2 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Belmatoug, N" sort="Belmatoug, N" uniqKey="Belmatoug N" first="N." last="Belmatoug">N. 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Cappellini</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Internal Medicine, Policlinico Foundation IRCCS, University of Milan</s1><s2>Milan</s2><s3>ITA</s3><sZ>4 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Vom Dahl, S" sort="Vom Dahl, S" uniqKey="Vom Dahl S" first="S." last="Vom Dahl">S. Vom Dahl</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Internal Medicine, St Franziskus Hospital</s1><s2>Cologne</s2><s3>DEU</s3><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>St Franziskus Hospital</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Goldblatt, J" sort="Goldblatt, J" uniqKey="Goldblatt J" first="J." last="Goldblatt">J. Goldblatt</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Genetic Services of Western Australia, King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of WA</s1><s2>Perth</s2><s3>AUS</s3><sZ>6 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Grabowski, G A" sort="Grabowski, G A" uniqKey="Grabowski G" first="G. A." last="Grabowski">G. A. Grabowski</name><affiliation wicri:level="2"><inist:fA14 i1="07"><s1>Division of Human Genetics, MLC 4006, Cincinnati Children's Hospital Medical Center</s1><s2>Cincinnati, Ohio</s2><s3>USA</s3><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Hollak, C E M" sort="Hollak, C E M" uniqKey="Hollak C" first="C. E. M." last="Hollak">C. E. M. Hollak</name><affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>8 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Hwu, P" sort="Hwu, P" uniqKey="Hwu P" first="P." last="Hwu">P. Hwu</name></author><author><name sortKey="Maas, M" sort="Maas, M" uniqKey="Maas M" first="M." last="Maas">M. Maas</name></author><author><name sortKey="Martins, A M" sort="Martins, A M" uniqKey="Martins A" first="A. M." last="Martins">A. M. Martins</name></author><author><name sortKey="Mistry, P K" sort="Mistry, P K" uniqKey="Mistry P" first="P. K." last="Mistry">P. K. Mistry</name></author><author><name sortKey="Pastores, G M" sort="Pastores, G M" uniqKey="Pastores G" first="G. M." last="Pastores">G. M. Pastores</name></author><author><name sortKey="Tylki Szymanska, A" sort="Tylki Szymanska, A" uniqKey="Tylki Szymanska A" first="A." last="Tylki-Szymanska">A. Tylki-Szymanska</name></author><author><name sortKey="Yee, J" sort="Yee, J" uniqKey="Yee J" first="J." last="Yee">J. Yee</name></author><author><name sortKey="Weinreb, N" sort="Weinreb, N" uniqKey="Weinreb N" first="N." last="Weinreb">N. Weinreb</name></author></analytic><series><title level="j" type="main">Journal of inherited metabolic disease</title><title level="j" type="abbreviated">J. inherit. metab. dis.</title><idno type="ISSN">0141-8955</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Journal of inherited metabolic disease</title><title level="j" type="abbreviated">J. inherit. metab. dis.</title><idno type="ISSN">0141-8955</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiosteoporotic</term><term>Biological marker</term><term>Bisphosphonates</term><term>Bone disease</term><term>Clinical management</term><term>Diseases of the osteoarticular system</term><term>Female</term><term>Gaucher disease</term><term>Genetic disease</term><term>Genetics</term><term>Human</term><term>Lipids</term><term>Management</term><term>Metabolic diseases</term><term>Monitoring</term><term>Nutrition</term><term>Pregnancy</term><term>Reference</term><term>Splenectomy</term><term>Surveillance</term><term>Treatment</term><term>Use</term><term>Woman</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Sphingolipidose héréditaire de Gaucher</term><term>Traitement</term><term>Gestion</term><term>Splénectomie</term><term>Conduite à tenir</term><term>Référence</term><term>Ostéopathie</term><term>Gestation</term><term>Femelle</term><term>Monitorage</term><term>Homme</term><term>Femme</term><term>Bisphosphonates</term><term>Utilisation</term><term>Marqueur biologique</term><term>Pathologie du système ostéoarticulaire</term><term>Surveillance</term><term>Génétique</term><term>Maladie métabolique</term><term>Nutrition</term><term>Maladie héréditaire</term><term>Lipide</term><term>Antiostéoporotique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Gestion</term><term>Homme</term><term>Femme</term><term>Génétique</term><term>Nutrition</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly ultra-orphan agent, a systematic disease management approach has been proposed by an international panel; this includes the development, by consensus, of achievable treatment goals. Here we critically review these goals and monitoring guidelines and incorporate emerging experience of the disease in the therapeutic era, as well as contemporary clinical research. This review makes recommendations related specifically to the management of pregnancy; the appropriate use of splenectomy and bisphosphonate treatment; the relevance of biochemical markers to disease monitoring; and the use of semiquantitative methods for assessing bone marrow infiltration. In addition, we identify key areas for development, including the requirement for a validated index of disease severity; the need to correlate widely used biomarkers with long-term disease outcomes, and the desirability of establishing agreed standards for monitoring of bone disease particularly in infants and children with Gaucher disease.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li><li>Hollande-Septentrionale</li><li>Lombardie</li><li>Ohio</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Cambridge</li><li>Milan</li><li>Paris</li></settlement><orgName><li>Université d'Amsterdam</li><li>Université de Cambridge</li></orgName></list><tree><noCountry><name sortKey="Hwu, P" sort="Hwu, P" uniqKey="Hwu P" first="P." last="Hwu">P. Hwu</name><name sortKey="Maas, M" sort="Maas, M" uniqKey="Maas M" first="M." last="Maas">M. Maas</name><name sortKey="Martins, A M" sort="Martins, A M" uniqKey="Martins A" first="A. M." last="Martins">A. M. Martins</name><name sortKey="Mistry, P K" sort="Mistry, P K" uniqKey="Mistry P" first="P. K." last="Mistry">P. K. Mistry</name><name sortKey="Pastores, G M" sort="Pastores, G M" uniqKey="Pastores G" first="G. M." last="Pastores">G. M. Pastores</name><name sortKey="Tylki Szymanska, A" sort="Tylki Szymanska, A" uniqKey="Tylki Szymanska A" first="A." last="Tylki-Szymanska">A. Tylki-Szymanska</name><name sortKey="Weinreb, N" sort="Weinreb, N" uniqKey="Weinreb N" first="N." last="Weinreb">N. Weinreb</name><name sortKey="Yee, J" sort="Yee, J" uniqKey="Yee J" first="J." last="Yee">J. Yee</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Cox, T M" sort="Cox, T M" uniqKey="Cox T" first="T. M." last="Cox">T. M. Cox</name></region></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Aerts, J M F G" sort="Aerts, J M F G" uniqKey="Aerts J" first="J. M. F. G." last="Aerts">J. M. F. G. Aerts</name></region><name sortKey="Hollak, C E M" sort="Hollak, C E M" uniqKey="Hollak C" first="C. E. M." last="Hollak">C. E. M. Hollak</name></country><country name="France"><region name="Île-de-France"><name sortKey="Belmatoug, N" sort="Belmatoug, N" uniqKey="Belmatoug N" first="N." last="Belmatoug">N. Belmatoug</name></region></country><country name="Italie"><region name="Lombardie"><name sortKey="Cappellini, M D" sort="Cappellini, M D" uniqKey="Cappellini M" first="M. D." last="Cappellini">M. D. Cappellini</name></region></country><country name="Allemagne"><noRegion><name sortKey="Vom Dahl, S" sort="Vom Dahl, S" uniqKey="Vom Dahl S" first="S." last="Vom Dahl">S. Vom Dahl</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Goldblatt, J" sort="Goldblatt, J" uniqKey="Goldblatt J" first="J." last="Goldblatt">J. Goldblatt</name></noRegion></country><country name="États-Unis"><region name="Ohio"><name sortKey="Grabowski, G A" sort="Grabowski, G A" uniqKey="Grabowski G" first="G. A." last="Grabowski">G. A. Grabowski</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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