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

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 (G...

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Bibliographic Details
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
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Summary: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 
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2021.104339