Kuntz T, Mitrakos G, Koushk-Jalali B, Oellig F, Eismann L, Tigges C, Kreuter A
Klinik für Dermatologie, Venerologie und Allergologie, HELIOS St. Elisabeth Klinik Oberhausen, Universität Witten/Herdecke, Josefstr. 3, 46045, Oberhausen, Deutschland.
Institut für Pathologie, Mülheim an der Ruhr, Deutschland.
Internist (Berl). 2020 Jun;61(6):621-625. doi: 10.1007/s00108-020-00793-1.
A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme α‑galactosidase A (α-GAL A). Treatment options include lifelong enzyme replacement therapy or chaperone therapy.
一名下腹部和生殖器区域患有弥漫性血管角质瘤的患者经基因检测被诊断为法布里病。法布里病是一种X连锁溶酶体贮积病，可影响包括心脏或肾脏在内的多个器官系统，导致中位生存期缩短。从发病机制上讲，法布里病会导致溶酶体酶α-半乳糖苷酶A（α-GAL A）缺乏。治疗选择包括终身酶替代疗法或伴侣疗法。
