[Fabry disease in childhood].
Fabry disease is a lysosomal disease caused by the accumulation of glycosphingolipids, mainly the globotriaosylceromid (Gb3) in different body tissues, mostly the kidney, the heart and the brain. Occuring most frequently during childhood, the first signs of the disease (hypohidrosis, ocroporesthesia, GI tract signs, and ongiokeratoma) are often unrecognized and the diagnosis is delayed. Even though Fabry disease is on x-linked disorder, the carrier females can also be symptomatic, and can even present sometimes with a pattern similar to that of the males. The availability of enzyme replacement therapy, which can potentially prevent the occurrence of renal, cardiac and neurological life threatening manifestations, underlines the importance of having an early diagnosis. The indications to start enzyme replacement therapy in childhood are currently the subject of specialists discussion in France.
Chabrol
Brigitte
B
Centre de Référence des Maladies Métaboliques de l'Enfant, Hôpital d'Enfants, CHU de la Timone, Marseille (13), France. brigitte.chabrol@ap-hm.fr
Mansour
Hicham
H
Cano
Aline
A
D002648:Child; D000795:Fabry Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D005817:Genetic Counseling; D006801:Humans; D000519:alpha-Galactosidase / Q000627:therapeutic use
D000519:alpha-Galactosidase