LYSOSOMAL STORAGE DISEASES: KIRIKKALE UNIVERSITY EXPERIENCE

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dc.contributor.authorBülbül, Selda
dc.contributor.authorÇelik, Cansu
dc.contributor.authorAlpcan, Ayşegül
dc.date.accessioned2025-01-21T16:19:25Z
dc.date.available2025-01-21T16:19:25Z
dc.date.issued2020
dc.departmentKırıkkale Üniversitesi
dc.description.abstractObjective: Lysosomal storage diseases which were firstdescribed in 1880; are important group of metabolic disorderscharacterized by the deposition of the substrates in lysosomesdue to defects of the activity or transport of lysosomal enzymesor a defect in the receptor proteins. LSDs usually show aprogressive clinical course and may not be represented with anyclinical signs during the neonatal period. The overall prevalenceof LSDs is 1 / 7000-8000. The aim of this study was to share theclinical characteristics of our LSDs patients and the experiencesof our pediatric metabolic diseases department.Material and Methods: This retrospective cohort study wasconducted at Kırıkkale University Hospital with 56 patientsdiagnosed as lysosomal storage disease among 315 patientsdiagnosed with metabolic diseases. Data were collected fromoutpatient clinic patient files who were diagnosed between 2011-2018.Results: A total of 315 patients diagnosed with inheritedmetabolic disease were followed in our clinic and 56 (17.7 %) ofthem were diagnosed as LSDs. The 56 patients were sufferingfrom the following diseases: 10 patients withMucopolysaccharidosis, 1 patient with mucolipidosis type 2 (Icelldisease), 41 patients with sphingolipidoses, two patients withcystinosis, one patient with Infantile Pompe Disease and onepatient with beta-mannosidosis.The mean age of the patients with Fabry Disease and the otherpatients diagnosed with other LSDs were 34.7±14.2 years(minimum 8, maximum 64) and 2.67±3.4 years (minimum 0,maximum 10.5) respectively. All diagnoses were verified byspecific enzyme analysis and/or by conducting genetic mutationanalysis.Conclusion: The most common lysosomal storage diseaseamong our patients were Mucopolysaccharidosis andsphingolipidosis. Treatment options, such as enzymereplacement therapy and bone marrow transplantation exist, and24 of these patients are receiving enzyme replacement therapy.
dc.identifier.doi10.24938/kutfd.675631
dc.identifier.endpage313
dc.identifier.issn2148-9645
dc.identifier.issue3
dc.identifier.startpage310
dc.identifier.trdizinid421507
dc.identifier.urihttps://doi.org/10.24938/kutfd.675631
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/421507
dc.identifier.urihttps://hdl.handle.net/20.500.12587/23076
dc.identifier.volume22
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.relation.ispartofKırıkkale Üniversitesi Tıp Fakültesi Dergisi
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectTıbbi Araştırmalar Deneysel
dc.subjectGenel ve Dahili Tıp
dc.subjectBiyokimya ve Moleküler Biyoloji
dc.subjectPediatri
dc.titleLYSOSOMAL STORAGE DISEASES: KIRIKKALE UNIVERSITY EXPERIENCE
dc.typeArticle

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