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Mirhosseini, N., Saeida-Ardekani, M., Mirhosseini, S. (2023). Patients with Gaucher Disease Type 1 and Their Outcome: A Case Series. Shahid Sadoughi University of Medical Sciences- Journal Management System, 6(1), 56-60. doi: 10.18502/wjpn.v6i1.14253
Naser Ali Mirhosseini; Maryam Saeida-Ardekani; Shima Mirhosseini. "Patients with Gaucher Disease Type 1 and Their Outcome: A Case Series". Shahid Sadoughi University of Medical Sciences- Journal Management System, 6, 1, 2023, 56-60. doi: 10.18502/wjpn.v6i1.14253
Mirhosseini, N., Saeida-Ardekani, M., Mirhosseini, S. (2023). 'Patients with Gaucher Disease Type 1 and Their Outcome: A Case Series', Shahid Sadoughi University of Medical Sciences- Journal Management System, 6(1), pp. 56-60. doi: 10.18502/wjpn.v6i1.14253
Mirhosseini, N., Saeida-Ardekani, M., Mirhosseini, S. Patients with Gaucher Disease Type 1 and Their Outcome: A Case Series. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2023; 6(1): 56-60. doi: 10.18502/wjpn.v6i1.14253

Patients with Gaucher Disease Type 1 and Their Outcome: A Case Series

World Journal of Peri and Neonatology
Article 7, Volume 6, Issue 1, December 2023, Pages 56-60    PDF (364.3 K)
Document Type: Case Report
DOI: 10.18502/wjpn.v6i1.14253
Authors
Naser Ali Mirhosseini1, 2, 3; Maryam Saeida-Ardekani3; Shima Mirhosseini* 4
1Children Growth Disorder Research Center, Shahid Sadoughi Hospital, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Department of Pediatrics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Mother and Newborn Health Research Center, Shahid Sadoughi Hospital, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4Department of Biology, Faculty of Science, Yazd University, Yazd, Iran
Abstract
Background: Gaucher disease is the most common lysosomal storage disease. Defective activity of the acid β-glucosidose which is encoded by the GBA1 gene, leads to the accumulation of excess amounts of the glucosyl ceramide lipid. Gaucher disease is clinically classified into three variants based on the relative degree and progression of neurological involvement. Gaucher disease type 1 manifests markedly variable phenotypes ranging from asymptomatic individuals to children who have massive hepatosplenomegaly, pancytopenia, and severe skeletal abnormalities.
Case Report: We report a case series of four patients with Gaucher disease type 1 with variable clinical manifestations treated with enzyme replacement therapy (ERT). In follow-up, three patients showed visceral and hematological improvements, while one case did not respond to ERT and died due to liver failure.
Conclusion: Gaucher disease should be considered with differential diagnosis of patients with unexplained organomegaly, who bruise easily and have bone pain which can be treated with ERT.
Keywords
Gaucher Disease; Manifestations; Enzyme Replacement Therapy; Storage Disease
References
  1. Essabar L, Meskini T, Lamalmi N, Ettair S, Erreimi N, Mouane N. Gaucher’s disease: report of 11 cases with review of the literature. Pan Afr Med J 2015; 20: 18.
  2. Kliegman RM, Geme JW. Nelson textbook of pediatrics. 21st ed. Philadelphia, PA: Elsevier. 2020. p. 772-3.
  3. Oto Y, Inoue T, Nagai S, Tanaka S, Itabashi H, Shiraisihi M, et al. Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case report. Exp Ther Med 2021; 21(3): 246.
  4. Yang M. Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report. J Med Case Rep 2018; 12(1): 306.
  5. NyhanWL, Hoffmann GF. Atlas of Inherited metabolic diseases. 4th Boca Raton, FL, C RC Press; 2020. p. 1005-6.
  6. Germain DP. Gaucher’s disease: a paradigm for interventional genetics. Clin Genet 2004; 65(2): 77-86.
  7. Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab 2015; 12(2):157-64.
  8. Ibrahim J, Underhill LH, Taylor JS, Angell J, Peterschmitt MJ. Clinical response to eliglustat in treatment-naïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase-treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry. Mol Genet Metab Reports 2016; 8: 17-9.
  9. Sun A. Lysosomal storage disease overview. Ann Transl Med 2018; 6(24): 476.
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