A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene.

ABSTRACT:

Background

Gitelman syndrome is an autosomal recessive inherited renal disorder characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Since the symptoms are not severe and laboratory results are not always clear, Gitelman syndrome can go unnoticed by physicians. Here, we report our experiences with a patient that presented with hypokalemia and proteinuria; genetic analysis revealed a new homozygous mutation in the SLC12A3 gene.

Case presentation

A 47-year-old man presented with hypokalemia and proteinuria. He had come to the hospital with the same symptoms 11 months and 3 years prior. His laboratory tests showed hypokalemia, hypocalciuria, and increased plasma angiotensin-2 activity. His renal pathology was consistent with the development of minimal lesions. Genet

SUBMITTER: Chen Q 

PROVIDER: S-EPMC6194551 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature