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Gastroenterologie
a hepatologie

Gastroenterology and Hepatology

Gastroent Hepatol 2020; 74(2): 158–162. doi:10.14735/amgh2020158.

Anderson-Fabry disease and gastrointestinal tract involvement

Gabriela Dostálová1,2, Lenka Roblová2, Petra Reková3, Josef Marek Orcid.org  2, Ondřej Kodet4, Zora Dubská5, Aleš Linhart Orcid.org  2, Daniel Rob

+ Affiliation

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.

Key words: Anderson-Fabry disease – lysosomal storage – diarrhoea – electron microscopy

Keywords

Anderson-Fabryho choroba, lyzozomální střádání, průjmovitá stolice

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Literature

1. Mehta A, Ricci R, Widmer U et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34 (3): 236–242. doi: 10.1111/j.1365-2362.2004.01309.x.

2. Meikle PJ, Hopwood JJ, Clauge AE et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281 (3): 249–254. doi: 10.1001/jama.281.3.249.

3. Anderson W. A case of „angio-keratoma“.  Br J Dermatol 1898; 10 (4): 113–117.

4. Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa  haemorrhagica Hebra). Arch Dermatol Syphilol (Berlin) 1898; 43: 187–201.

5. Hopkin RJ, Bissler J, Banikazemi M et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008; 64 (5): 550–555. doi: 10.1203/PDR.0b013e318183f132.

6. Kanda A, Nakao S, Tsuyama S et al. Fabry disease: ultrastructural lectin histochemical analyses of lysosomal deposits. Virchows Arch 2000; 436 (1): 36–42. doi: 10.1007/pl00008196.

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