The Turkish Journal of Pediatrics 2011 , Vol 53 , Num 5
Outcome of Enzyme Replacement Therapy in Turkish Patients with Gaucher Disease: Does Late Intervention Affect the Response
1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics and 2Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey We aimed to evaluate the outcome of enzyme replacement therapy (ERT) in Turkish Gaucher patients since it first became available in our country. Eleven patients with type I and one patient with type III Gaucher disease (GD) received therapy as 30-60 U/kg and 120 U/kg every two weeks, respectively, for at least six months, starting a mean period of 4.2 years after the diagnosis. Assessment of response included serial measurements of hematological and biochemical parameters and liver and spleen volumes. Symptoms and signs of bone disease, growth and severity scores were also evaluated. ERT in Turkish patients led to marked improvement in hematological parameters and organomegaly in the majority of them. Patients with growth failure demonstrated catch-up growth. Progression of bone disease was not observed except in two patients who experienced a delay of 15 and 8.6 years, respectively, between the diagnosis and the start of ERT. Keywords : late, enzyme replacement therapy, Gaucher, children, outcome.
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