[Clinical outcomes of 2 pediatric patients with Gaucher's disease in enzyme replacement therapy for 9 years].
We report two cases of type 1 Gaucher's disease in childhood and their outcomes after 9 years of enzyme replacement therapy. The first case concerns a 6-year-old boy who was diagnosed with Gaucher's disease after developing petechial exanthema, thrombocytopenia, anemia and hepatosplenomegaly, coinciding with chickenpox. The second case involves a 9-year-old girl who was referred to our unit. She had hepatosplenomegaly since 4-month-old and subsequently developed thrombocytopenia. Both patients have the N370S/L444P mutation. Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks at the age of 6 and 9 years, respectively. In both patients, the therapeutic goals were achieved and maintained throughout treatment with a dose of 30 U/kg.
Unidad Pediátrica de Enfermedades Raras-Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias, Departamento de Pediatría, Hospital Universitario 12 de Octubre, Madrid, Spain. pilar.quijadaf@salud.madrid.org
Pilar
P
Quijada Fraile
Elena
E
Martín Hernández
María
M
Teresa García-Silva
D002648:Child; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy / Q000235:genetics; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D013997:Time Factors
D005962:Glucosylceramidase; C090568:imiglucerase