Recurrent fever of unknown origin: An overlooked symptom of Fabry disease.

ABSTRACT:

Objective

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.

Methods

Three Chinese Han patients with FD referred to Peking Union Medical College Hospital were reported. The complete medical records were established, and detailed data were collected. Whole-exome sequencing by next-generation sequencing and α-Gal A enzyme activity assay were performed to confirm the diagnosis.

Results

These thr

SUBMITTER: Luo Y 

PROVIDER: S-EPMC7549601 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature