Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience

• Published in: European journal of medical genetics 2021-11, Vol.64 (11), p.104339-104339, Article 104339
• Main Authors: Gumus, Ersin, Karhan, Asuman Nur, Hizarcioglu-Gulsen, Hayriye, Demir, Hulya, Ozen, Hasan, Saltik Temizel, Inci Nur, Dokmeci (Emre), Serap, Yuce, Aysel
• Format: Article
• Language: English
• Subjects: Adolescent; Anemia; Child; Child, Preschool; Enzyme Replacement Therapy; Female; Gaucher Disease - drug therapy; Gaucher Disease - epidemiology; Gaucher Disease - genetics; Gaucher Disease - pathology; Glucosylceramidase - genetics; Glucosylceramidase - therapeutic use; Hepatosplenomegaly; Humans; Infant; Lysosomal storage disease; Male; Phenotype; Thrombocytopenia; Treatment Outcome; Turkey
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2021.104339

Data from 38 children were retrospectively analyzed to determine the patient characteristics of Turkish children with Gaucher disease (GD) and evaluate the impact of enzyme replacement therapy (ERT) in a pediatric cohort consisting of two different sub-types of the disease, Gaucher disease type 1 (GD1) and type 3 (GD3). Both types were represented equally (GD1/GD3 = 20/18). L444P (35.5%) was the most common mutant allele while L444P/L444P (34.2%) was the most common genotype overall. Compound heterozygosity of N370S and L444P homozygosity were the dominant genotypes in Turkish children with GD1 and GD3, respectively. None of the patients had moderate to severe thrombocytopenia at last follow-up while the percent of patients with anemia decreased from 60% to 5.7% (p