engleski

Mucopolysaccharidosis type 1 : First experiences with enzyme replacement therapy (ERT) in Croatia

Mucopolysaccharidosis type 1 (MPS1) is an inherited storage disease caused by deficiency of alpha- L-iduronidase. Recently, ERT has become available. Here we report our short-term experience. The patient was 2 years and 3months old boy when MPS1 was diagnosed. The most prominent clinical findings were coarse face, macrocephaly, hepatosplenomegaly and bilateral inguinal hernia. There was no activity of alpha-L-iduronidase in fibroblasts. At the age of 4 and a half years, when ERT (Aldurazyme (R)) was initiated, additional clinical signs were joint contractures, corneal clouding and mitral valve insufficiency. Mental development has been normal. The patient has been receiving L-iduronidase i.v., in about one week intervals, now for six months, at a dose of about 115 U/kg of body weight. The only significant side effects were abdominal colics, tachycardia, vomiting, shivers and fever during his fifth infusion. They occured 90 minutes after the start of infusion at infusion rate of 10.6 U/min, during which he had abdominal dyscomfort also in two preceeding infusions. Symptoms disappeared 30 minutes after stopping the infusion. Specific IgE was not present. Subsequent six infusions ran smoothly after methylprednisolone in addition to standard premedication (ibuprofen, diphenhydramine). Thereafter, methylprednisolone was discontinued. Positive effects were remarkable decrease of liver and spleen size, less expressed upper airway obstruction and generally improved mobility. Urinary glucosaminoglycans decreased from 44 before the therapy to 16 mg/mol creatinine (normal <20) after 6 monthts of therapy. Ten days after the infusion alpha-L-iduronidase activity was about 17 % of control after the 11th infusion and about 10 % of control after the 17th infusion, raising the question of proper frequency of infusions.

Mucopolysaccharidosis; Enzyme replacment therapy; Side effects

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