Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome

Journal of Korean Medical Science
Jae Wook LeeJin Suk Han

Abstract

Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are still unclear. To investigate genotype-phenotype correlation in GS and Gitelman-like syndrome, we enrolled 34 patients who showed hypokalemic metabolic alkalosis without secondary causes. Mutation analysis of SLC12A3 and CLCNKB was performed. Thirty-one patients had mutations in SLC12A3, 5 patients in CLCNKB, and 2 patients in both genes. There was no significant difference between male and female in clinical manifestations at the time of presentation, except for early onset of symptoms in males and more profound hypokalemia in females. We identified 10 novel mutations in SLC12A3 and 4 in CLCNKB. Compared with those with CLCNKB mutations, patients with SLC12A3 mutations were characterized by more consistent hypocalciuria and hypomagnesemia. Patients with 2 mutant SLC12A3 alleles, compared with those with 1 mutant allele, did not have more severe clinical and laboratory findings except for lower plasma magnesium concentrations. Male and female patients did not differ in their requirement for electrolyte rep...Continue Reading

References

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Citations

May 29, 2018·The Journal of International Medical Research·Qingguo LüNanwei Tong
Jul 28, 2016·Electrolyte & Blood Pressure : E & BP·Yaerim KimSeungyeup Han
Dec 28, 2018·QJM : Monthly Journal of the Association of Physicians·A IsmailY Ismail
Nov 19, 2019·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·M Adela MansillaChristie P Thomas
Apr 28, 2017·BMC Nephrology·Chandrika Jayakanthi SubasingheVajira Harshadeva Weerabaddana Dissanayake
May 23, 2019·Molecular Medicine Reports·Yanhan LiYanling Yang
Apr 24, 2020·Molecular Diagnosis & Therapy·Jeffrey D Rubin, Michael A Barry
Jul 25, 2019·Pediatric Gastroenterology, Hepatology & Nutrition·Ju Young KimHye Ran Yang
Oct 16, 2018·Frontiers in Endocrinology·Xiaoyan PengLimeng Chen
May 18, 2021·Frontiers in Pediatrics·Lingxia ZhangJianhua Mao

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Methods Mentioned

BETA
urine collection
PCR

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