LYSOSOMAL STORAGE DISEASES: KIRIKKALE UNIVERSITY EXPERIENCE

Objective & Hypothesis:Objective: Lysosomal storage diseases which were first described in 1880; are important group of metabolic disorders characterized by the deposition of the substrates in lysosomes due to defects of the activity or transport of lysosomal enzymes or a defect in the receptor proteins.

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Key Findings & Data:The overall prevalence of LSDs is 1 / 7000-8000.

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Conclusion & Impact:The aim of this study was to share the clinical characteristics of our LSDs patients and the experiences of our pediatric metabolic diseases department.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Lizozomal lipid depo hastalığı · mukopolisakkaridozlar · enzim replasman tedavisi

Abstract

Objective: Lysosomal storage diseases which were first described in 1880; are important group of metabolic disorders characterized by the deposition of the substrates in lysosomes due to defects of the activity or transport of lysosomal enzymes or a defect in the receptor proteins. LSDs usually show a progressive clinical course and may not be represented with any clinical signs during the neonatal period. The overall prevalence of LSDs is 1 / 7000-8000. The aim of this study was to share the clinical characteristics of our LSDs patients and the experiences of our pediatric metabolic diseases department.

Özet

Giriş: İlk olarak 1880 yılında tanımlanan lizozomal depo hastalıkları; lizozomal enzim aktivitesinde veya taşınmasında kusur sebebiyle ya da lizozomal membranların reseptör proteinlerindeki defektlere bağlı olarak substratların lizozomlarda birikmesi ile karakterize önemli bir metabolik hastalık grubudur. lizozomal depo hastalıkları genellikle ilerleyici bir seyir gösterir ve yenidoğan döneminde hiçbir klinik bulgu vermez. Genel popülasyonda lizozomal depo hastalığı prevalansı 1 / 7000-8000‘dir. Bu çalışma ile lizozomal depo hastalığı tanılı hastalarımızın klinik özelliklerini ve pediatrik metabolizma departmanımızın bu konudaki deneyimlerini paylaşmayı amaçladık.

Keywords

Lizozomal lipid depo hastalığı mukopolisakkaridozlar enzim replasman tedavisi Lysosomal lipid storage disease mucopolysaccharidoses enzyme replacement therapy

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Cite This Article

BÜLBÜL, S., ÇELİK, C., ALPCAN, A. (2020). LYSOSOMAL STORAGE DISEASES: KIRIKKALE UNIVERSITY EXPERIENCE. Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, Cilt: 22 - Sayı: 3, 310–313. https://ajindex.com/articles/209444

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