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Gumus E, Karhan AN, Hizarcioglu-Gulsen H, et al. Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience. Eur J Med Genet. 2021;64(11):104339doi: 10.1016/j.ejmg.2021.104339.
Gumus, E., Karhan, A. N., Hizarcioglu-Gulsen, H., Demir, H., Ozen, H., Saltik Temizel, I. N., Dokmeci Emre, S., & Yuce, A. (2021). Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience. European journal of medical genetics, 64(11), 104339. https://doi.org/10.1016/j.ejmg.2021.104339
Gumus, Ersin, et al. "Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience." European journal of medical genetics vol. 64,11 (2021): 104339. doi: https://doi.org/10.1016/j.ejmg.2021.104339
Gumus E, Karhan AN, Hizarcioglu-Gulsen H, Demir H, Ozen H, Saltik Temizel IN, Dokmeci Emre S, Yuce A. Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience. Eur J Med Genet. 2021 Nov;64(11):104339. doi: 10.1016/j.ejmg.2021.104339. Epub 2021 Sep 06. PMID: 34500086.
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Eur J Med Genet. 2021 Nov;64(11):104339. doi: 10.1016/j.ejmg.2021.104339. Epub 2021 Sep 06.

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

European journal of medical genetics

Ersin Gumus, Asuman Nur Karhan, Hayriye Hizarcioglu-Gulsen, Hulya Demir, Hasan Ozen, Inci Nur Saltik Temizel, Serap Dokmeci Emre, Aysel Yuce

Affiliations

  1. Department of Pediatric Gastroenterology, Hacettepe University Children's Hospital, Ankara, Turkey. Electronic address: [email protected].
  2. Department of Pediatric Gastroenterology, Hacettepe University Children's Hospital, Ankara, Turkey.
  3. Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

PMID: 34500086 DOI: 10.1016/j.ejmg.2021.104339

Abstract

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 < 0.001). Significant improvements in mean liver (from 2.2 to 1.6 MN, p < 0.001) and spleen (from 15.5 to 7.6 MN, p < 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 < 0.01) at year 5. Erlenmeyer flask deformity, osteopenia and scoliosis were common skeletal findings. Although none of the patients had lung disease at diagnosis, 20% developed radiological findings suggestive of pulmonary involvement. This single center experience is the first comprehensive study from Turkey not only reporting clinical and genetic characteristics of GD patients but also providing information on the outcomes of ERT in two different sub-types of GD. Genotypic background of Turkish children with GD is similar to western populations. Although visceral and hematological therapeutic goals are reached as early as one year of ERT in both sub-types, achieving normal growth takes several more years than suggested in significant number of children with GD.

Copyright © 2021 Elsevier Masson SAS. All rights reserved.

Keywords: Anemia; Enzyme replacement therapy; Hepatosplenomegaly; Lysosomal storage disease; Thrombocytopenia

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