Anderson-Fabry disease and gastrointestinal tract involvement

Česká verzia

Authors: Dostálová G. ¹; Roblová L. ¹; Reková P. ²; Rob D. ¹; Marek J. ¹; Kodet O. ³; Dubská Z. ⁴; Linhart A. ¹
Authors place of work: II. interní klinika – klinika kardiologie a angiologie 1. LF UK a VFN, Praha ¹; Neurologická klinika 1. LF UK a VFN v Praze ²; Dermatovenerologická klinika 1. LF UK a VFN v Praze ³; Oční klinika 1. LF UK a VFN v Praze ⁴
Published in the journal: Gastroent Hepatol 2020; 74(2): 158-162
Category: Chapters from Internal Medicine: Case report
doi: https://doi.org/10.14735/amgh2020158

Summary

Anderson-Fabry disease (AFD) is a relatively rare X-linked hereditary storage disorder, caused by mutation of the gene for α-galaktosidase A (α-Gal A). Low or even zero level activity of the enzyme α-Gal A caused accumulation of glycosphingolipids in lysosomes. This lysosomal storage causes cell dysfunction and subsequent organ malfunction. AFD patients suffer from renal, cardiac, vessel and neurological symptoms, last but not least from skin and gastrointestinal involvement. Enzyme replacement therapy has been shown effective, with earlier diagnosis resulting in better outcomes in patients with AFD.

Keywords:

Anderson-Fabry disease – lysosomal storage – diarrhoea – Electron microscopy

Zdroje

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