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

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. Genetic analysis found a new homozygous mutation in exon 6 on the SLC12A3 gene (p.Trp281Arg) in the patient and in his brother; his mother and sister were diagnosed as heterozygous carriers of the same gene mutation. Finally, the patient was diagnosed with Gitelman syndrome. CONCLUSIONS: This case is the first to report a homozygous mutation in the 841th nucleotide of exon 6 on the SLC12A3 gene (p.Trp281Arg), which may cause Gitelman syndrome. At the same time, this report might stimulate interest in discussing the relationship between different mutations in the SLC12A3 gene and renal pathology.