Colonic Involvement in Fabry Disease.

Autor: Deniz, Kemal, Yurci, Alper, Yağbasan, Ahmet, Tekelioğlu, Fatoş, Gürsoy, Şebnem, Güven, Kadri
Předmět:
Zdroj: International Journal of Surgical Pathology; Dec2011, Vol. 19 Issue 6, p777-778, 2p
Abstrakt: The article describes the case of a 27-year-old male who was diagnosed with Fabry disease, a rare X-linked inherited lysosomal storage disorder. The patient presented to the gastroenterology clinic with episodic diarrhea for two years. Fabry disease is characterized by the deficiency of α-galactosidase A.
Databáze: Complementary Index