title: Outcome of enzyme replacement therapy in Turkish patients with Gaucher disease: does late intervention affect the response?
abstract: 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.
authors.affiliation: Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Arikan-Ayyildiz
authors.forename: Aysel
authors.initials: A
authors.lastname: Yüce
authors.forename: Serap
authors.initials: S
authors.lastname: Emre
authors.forename: Gökhan
authors.initials: G
authors.lastname: Baysoy
authors.forename: Inci Nur
authors.initials: IN
authors.lastname: Saltik-Temizel
authors.forename: Figen
authors.initials: F
authors.lastname: Gürakan
mesh_terms: D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000201:enzymology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D008297:Male; D016896:Treatment Outcome; D014421:Turkey
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase