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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 Marek2, Ondřej Kodet4, Zora Dubská5, Aleš Linhart2, Daniel Rob

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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


Anderson-Fabryho choroba, lyzozomální střádání, průjmovitá stolice

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