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Archives de pédiatrie
Volume 18, n° 2
pages 165-169 (février 2011)
Doi : 10.1016/j.arcped.2010.11.013
Received : 24 December 2009 ;  accepted : 26 November 2010
Maladie de Gaucher de type 1 : difficultés pour la transition enfants-adultes
Difficult transitions from paediatric to adult care in type 1 Gaucher disease
 

N. Buchbinder a, , M. Berger b, A. Robert c, J.-P. Vannier a
a Service d’hématologie, oncologie et immunologie pédiatriques, CHU Charles-Nicolle, 1, rue de Germont, 76000 Rouen, France 
b Service d’hématologie biologique et immunologie, CHU de Clermont-Ferrand, hôpital Gabriel-Montpied, 58, rue Montalembert, 63003 Clermont-Ferrand, France 
c Service d’hématologie et oncologie pédiatrique, hôpital des enfants, 330, avenue de Grande-Bretagne, 31059 Toulouse, France 

Auteur correspondant.
Résumé

La maladie de Gaucher, qui est la plus fréquente des maladies de surcharge lysosomale, se manifeste par un hypersplénisme parfois majeur et par d’importantes lésions osseuses et articulaires. Ces lésions, qui sont d’installation progressive, peuvent devenir irréversibles en l’absence de traitement, entraînant une grande altération de la qualité de vie des patients. Depuis près de 20 ans, un traitement enzymatique substitutif a permis une réelle amélioration de l’histoire naturelle de cette maladie. Celle-ci est obtenue au prix d’un suivi rigoureux, et du respect des indications du traitement enzymatique, permettant de l’initier avant l’installation des lésions irréversibles. Une fois instauré, ce traitement doit être poursuivi sans interruption. Dans l’histoire d’un patient atteint de maladie de Gaucher, la transition entre les équipes de pédiatrie et de médecine d’adultes représente un moment de fragilité. Nous rapportons 3 observations de patients ayant été perdus de vue au moment de cette transition et qui ont connu une nette aggravation de leur maladie au cours de cette période.

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Summary

Gaucher disease is the most frequent lysosomal storage disease. It is a progressive chronic disease that can lead to substantial bone and joint damage and hematological cytopenias. This progressive disease severely worsens the patients’ quality of life. Over the past 20 years, enzymatic treatment has considerably improved both symptoms and quality of life. Yet, bone and joint damage may be irreversible. This emphasizes the importance of rigorous follow-up so as to begin uninterrupted treatment before lesion onset. The transition from pediatric to adult care is a major concern for chronic patients. This step is often associated with follow-up problems and may lead to disease worsening. We present three cases of patients who were lost to follow-up during the transition phase. For all 3 patients, the disease notably worsened because follow-up was interrupted during this period.

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