title: Pediatric Gaucher experience in South Marmara region of Turkey.
abstract: OBJECTIVE
  The aim was to represent the clinical characteristics of six children with Gaucher disease and to describe the results of three years' enzyme replacement therapy.
  
  
  METHODS
  The data of six Gaucher patients treated with imiglucerase for more than three years were collected. Age, gender, anthropometric measurements, physical examination findings, ophthalmological evaluations, blood counts, liver function tests, liver and spleen sizes, and bone mineral density of the patients were recorded. Clinical presentations, progressions and therapeutic achievements were evaluated.
  
  
  RESULTS
  At the time of diagnosis, all patients were clinically type 1 Gaucher disease. Bone lesions, thrombocytopenia and hepatosplenomegaly were found in all patients at diagnosis. After three years of therapy, normalization of blood cell counts, liver and spleen sizes, bone mineral density, and growth was achieved in all patients. Two patients developed neurological symptoms on enzyme replacement therapy, and the diagnosis in these patients was changed to Gaucher type 3. We observed progression of vertebral bone lesions in three patients despite treatment.
  
  
  CONCLUSIONS
  The results of enzyme replacement therapy are satisfying, but the possibility of deterioration in clinical findings despite therapy should be kept in mind.
authors.affiliation: Uludağ University, School of Medicine, Department of Pediatric Gastroenterology, Bursa, Turkey. gulinerdemir@yahoo.com
authors.forename: Gülin
authors.initials: G
authors.lastname: Erdemır
authors.forename: Tanju
authors.initials: T
authors.lastname: Özkan
authors.forename: Taner
authors.initials: T
authors.lastname: Özgür
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Yazici
authors.forename: Özlem
authors.initials: Ö
authors.lastname: Özdemır
mesh_terms: D000293:Adolescent; D015519:Bone Density; D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006529:Hepatomegaly / Q000209:etiology / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D011994:Recombinant Proteins / Q000627:therapeutic use; D013163:Splenomegaly / Q000209:etiology / Q000473:pathology; D016896:Treatment Outcome; D014421:Turkey
chemical_list: D011994:Recombinant Proteins; D005962:Glucosylceramidase; C090568:imiglucerase