Recurrent fever of unknown origin: An overlooked symptom of Fabry disease.,Molecular Genetics & Genomic Medicine

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Recurrent fever of unknown origin: An overlooked symptom of Fabry disease.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-14 , DOI: 10.1002/mgg3.1454
Yi Luo ₁ , Di Wu ₁ , Min Shen ₁

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Fabry disease (FD) is a rare X‐linked lysosomal storage disorder due to the absent or deficient activity of lysosomal hydrolase a‐galactosidase A (α‐Gal A), which leads to the accumulation of its substrates in various organs and tissues. Classic clinical manifestations include angiokeratomas, proteinuria, renal failure, neuropathic pain, and left ventricular hypertrophy. Fever is one of the rare symptoms that may occur during FD.

中文翻译：

未知原因的反复发烧：法布里病的一种被忽视的症状。

由于溶酶体水解酶α-半乳糖苷酶A（α-GalA）缺乏或活性不足，法布里病（FD）是一种罕见的X连锁溶酶体贮积病，导致其底物在各种器官和组织中积累。经典的临床表现包括血管性角膜瘤，蛋白尿，肾衰竭，神经性疼痛和左心室肥大。发烧是FD期间可能发生的罕见症状之一。

更新日期：2020-10-12

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