Selda BÜLBÜL, Cansu ÇELİK, Ayşegül ALPCAN

Lizozomal Depo Hastalıkları: Kırıkkale Üniversitesi Deneyimi

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.

Anahtar Kelimeler:

Lizozomal lipid depo hastalığı, mukopolisakkaridozlar, , enzim replasman tedavisi

LYSOSOMAL STORAGE DISEASES: KIRIKKALE UNIVERSITY EXPERIENCE

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.

Keywords:

Lysosomal lipid storage disease, mucopolysaccharidoses, enzyme replacement therapy,

PDF

___

1. Futerman AH, van Meer G. The cell biology of lysosomal storage diseases. Nat Rev Mol Cell Biol. 2004;5(7):554-65.
2. Bellettato CM, Hubert L, Scarpa M, Wangler MF. Inborn errors of metabolism involving complex molecules: lysosomal and peroxisomal storage diseases. Pediatric Clinics. 2018;65(2):353-73.
3. Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta. 2009;1793(4):684-96.
4. Giugliani R, Brusius Facchin AC, Pasqualim G, Leistner-Segal S, Riegel M, Matte U. Current molecular genetics strategies for the diagnosis of lysosomal storage disorders. Expert Rev Mol Diagn. 2016;16(1):113-23.
5. Li D, Lin Y, Huang Y, Zhang W, Jiang M, Li X et al. Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis. Prenat Diagn. 2018;38(10):779-87.
6. Safary A, Akbarzadeh Khiavi M Omidi Y, A Rafi M. Targeted enzyme delivery system in lysosomal disorders: an innovative form of therapy for mucopolysaccharidosis. Cell Mol Life Sci. 2019;76(17):3363-81.
7. Ezgü F. Lysosomal Storage Diseases and Enzyme Replacement Therapy. Turkiye Klinikleri J Pediatr Sci. 2011;7(2):99-106.
8. Guy R, Forsyth JM, Cooper A, Morton RE. Co-existence of lysosomal storage diseases in a consanguineous family. Child Care Health Dev. 2001;27(2):173-ve ark181.