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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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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creator Gumus, Ersin
Karhan, Asuman Nur
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Saltik Temizel, Inci Nur
Dokmeci (Emre), Serap
Yuce, Aysel
description 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 
doi_str_mv 10.1016/j.ejmg.2021.104339
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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 &lt; 0.001). Significant improvements in mean liver (from 2.2 to 1.6 MN, p &lt; 0.001) and spleen (from 15.5 to 7.6 MN, p &lt; 0.001) volumes were observed in the first year of ERT. Linear growth was ameliorated as shown by the decrease in the percent of patients having short stature from 34.3% to 13.3% (p &lt; 0.01) at year 5. Erlenmeyer flask deformity, osteopenia and scoliosis were common skeletal findings. 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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 &lt; 0.001). Significant improvements in mean liver (from 2.2 to 1.6 MN, p &lt; 0.001) and spleen (from 15.5 to 7.6 MN, p &lt; 0.001) volumes were observed in the first year of ERT. Linear growth was ameliorated as shown by the decrease in the percent of patients having short stature from 34.3% to 13.3% (p &lt; 0.01) at year 5. Erlenmeyer flask deformity, osteopenia and scoliosis were common skeletal findings. 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ispartof European journal of medical genetics, 2021-11, Vol.64 (11), p.104339-104339, Article 104339
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source ScienceDirect Freedom Collection 2022-2024
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
title Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience
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