Clinical and Genetic Analysis of a Uyghur Patient with Gitelman's Syndrome

  Objective  To analyze the clinical manifestations and molecular basis of a Uyghur patient with Gitelman's syndrome (GS).

  Methods  Clinical features, laboratory data, and imaging results of this patient were collected. Genomic DNA was extracted from leukocytes of peripheral blood of the patient. Twenty-six exons of the GS gene and their boundaries with introns were amplified by polymerase chain reaction (PCR). The mutations of the SLC12A3 gene were identified by direct sequencing.

  Results  GS was diagnosed based on comprehensive consideration of clinical presentations, laboratory test results, and imaging findings. Gene mutation test revealed a nucleotide substitution of adenine for guanine at the position 1964 of cDNA sequence of SLC12A3 gene (c.1964 G>A), which caused a missense mutation of arginine to histidine at codon 655 (p.Arg655His). It occurred at the 16th exon of SLC12A3.

  Conclusions  SLC12A3 gene mutation analysis confirms the diagnosis of GS in this Uyghur patient from the aspect of molecular genetics. GS should be suspected in patients with per-sisting hypokalemia, renal potassium loss, metabolic alkalosis, normal or low-than-normal blood pressure, andhypocalcuria. Genetic analysis of SLC12A3 may be helpful to confirm the diagnosis.