A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome.
- Author:
Yaerim KIM
1
;
Seong Sik KANG
;
Woo Yeong PARK
;
Kyubok JIN
;
Dae Kwang KIM
;
Seungyeup HAN
Author Information
- Publication Type:Case Report
- Keywords: Gitelman's syndrome; SLC12A3 gene; Hypokalemia; Hypomagnesemia
- MeSH: Adult; Alkalosis; Biopsy; Blood Gas Analysis; Carrier State; Cytosine*; Exons; Gitelman Syndrome*; Humans; Hypokalemia; Microscopy; Microscopy, Fluorescence; Mutation, Missense*; Parents; Pedigree*; Siblings; Solute Carrier Family 12, Member 3; Thorax; Threonine*; Ultrasonography
- From:Electrolytes & Blood Pressure 2016;14(1):16-19
- CountryRepublic of Korea
- Language:English
- Abstract: A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior. His laboratory test showed hypokalemia, hypomagnesemia and hypocalciuria. The arterial blood gas analysis showed hypochloremic metabolic alkalosis. He had an ultrasonography guided renal biopsy, the result was normal at light microscopy and immunofluorescence microscopy. However, a special stain for Na-Cl cotransporter was weakly expressed compared with the control. The patient and his family underwent genetic sequencing about the SLC12A3 gene. He had a homozygous mutation in the 179th nucleotide of Exon 1 on the SLC12A3 gene (p.Thr60Met) and his parents and sisters were diagnosed as carrier state of Gitelman's syndrome (GS). GS is an inherited tubular disorder which presents mild hypokalemia, hypomagnesemia and hypocalciuria. Since the symptoms and laboratory results are not severe, it can go unnoticed by physicians. Herein we present a family with GS, diagnosed by genetic sequencing.
