Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Identifieur interne : 002B93 ( PascalFrancis/Curation ); précédent : 002B92; suivant : 002B94Management 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.
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Pascal:08-0316944Le document en format XML
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<series><title level="j" type="main">Journal of inherited metabolic disease</title>
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<term>Metabolic diseases</term>
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<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>
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<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Traitement</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Treatment</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Tratamiento</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Gestion</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Management</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Gestión</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Splénectomie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Splenectomy</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Esplenectomía</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Conduite à tenir</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Clinical management</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Actitud médica</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Référence</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Reference</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Referencia</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Ostéopathie</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Bone disease</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Osteopatía</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Gestation</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Pregnancy</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Gestación</s0>
<s5>08</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Femelle</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Female</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Hembra</s0>
<s5>09</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Monitorage</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Monitoring</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Monitoreo</s0>
<s5>10</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Homme</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Human</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Hombre</s0>
<s5>11</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Femme</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Woman</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Mujer</s0>
<s5>12</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Bisphosphonates</s0>
<s5>17</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>Bisphosphonates</s0>
<s5>17</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>Bisfosfonatos</s0>
<s5>17</s5>
</fC03>
<fC03 i1="14" i2="X" l="FRE"><s0>Utilisation</s0>
<s5>18</s5>
</fC03>
<fC03 i1="14" i2="X" l="ENG"><s0>Use</s0>
<s5>18</s5>
</fC03>
<fC03 i1="14" i2="X" l="SPA"><s0>Uso</s0>
<s5>18</s5>
</fC03>
<fC03 i1="15" i2="X" l="FRE"><s0>Marqueur biologique</s0>
<s5>19</s5>
</fC03>
<fC03 i1="15" i2="X" l="ENG"><s0>Biological marker</s0>
<s5>19</s5>
</fC03>
<fC03 i1="15" i2="X" l="SPA"><s0>Marcador biológico</s0>
<s5>19</s5>
</fC03>
<fC03 i1="16" i2="X" l="FRE"><s0>Pathologie du système ostéoarticulaire</s0>
<s5>20</s5>
</fC03>
<fC03 i1="16" i2="X" l="ENG"><s0>Diseases of the osteoarticular system</s0>
<s5>20</s5>
</fC03>
<fC03 i1="16" i2="X" l="SPA"><s0>Sistema osteoarticular patología</s0>
<s5>20</s5>
</fC03>
<fC03 i1="17" i2="X" l="FRE"><s0>Surveillance</s0>
<s5>21</s5>
</fC03>
<fC03 i1="17" i2="X" l="ENG"><s0>Surveillance</s0>
<s5>21</s5>
</fC03>
<fC03 i1="17" i2="X" l="SPA"><s0>Vigilancia</s0>
<s5>21</s5>
</fC03>
<fC03 i1="18" i2="X" l="FRE"><s0>Génétique</s0>
<s5>22</s5>
</fC03>
<fC03 i1="18" i2="X" l="ENG"><s0>Genetics</s0>
<s5>22</s5>
</fC03>
<fC03 i1="18" i2="X" l="SPA"><s0>Genética</s0>
<s5>22</s5>
</fC03>
<fC03 i1="19" i2="X" l="FRE"><s0>Maladie métabolique</s0>
<s5>23</s5>
</fC03>
<fC03 i1="19" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>23</s5>
</fC03>
<fC03 i1="19" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>23</s5>
</fC03>
<fC03 i1="20" i2="X" l="FRE"><s0>Nutrition</s0>
<s5>24</s5>
</fC03>
<fC03 i1="20" i2="X" l="ENG"><s0>Nutrition</s0>
<s5>24</s5>
</fC03>
<fC03 i1="20" i2="X" l="SPA"><s0>Nutrición</s0>
<s5>24</s5>
</fC03>
<fC03 i1="21" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>25</s5>
</fC03>
<fC03 i1="21" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>25</s5>
</fC03>
<fC03 i1="21" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>25</s5>
</fC03>
<fC03 i1="22" i2="X" l="FRE"><s0>Lipide</s0>
<s5>26</s5>
</fC03>
<fC03 i1="22" i2="X" l="ENG"><s0>Lipids</s0>
<s5>26</s5>
</fC03>
<fC03 i1="22" i2="X" l="SPA"><s0>Lípido</s0>
<s5>26</s5>
</fC03>
<fC03 i1="23" i2="X" l="FRE"><s0>Antiostéoporotique</s0>
<s5>27</s5>
</fC03>
<fC03 i1="23" i2="X" l="ENG"><s0>Antiosteoporotic</s0>
<s5>27</s5>
</fC03>
<fC03 i1="23" i2="X" l="SPA"><s0>Antiosteoporótico</s0>
<s5>27</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Enzymopathie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Enzymopathy</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enzimopatía</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Lipoïdose</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Lipoidosis</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Lipoidosis</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Chirurgie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Surgery</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Cirugía</s0>
<s5>42</s5>
</fC07>
<fN21><s1>196</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>
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