Gitelman Syndrome Combined with Congenital Chloride Losing Diarrhea Owning to Defective SLC12A3 and SLC26A3

Nan Li*, Shu Zhang, Jingbo Zhou, Yue Zhao, Xiqiao Zhou, Jiangyi Yu and Liji Huang*

Department of Endocrinology, Jiangsu Province Hospital of Chinese Medicine, The Affiliated Hospital of Nanjing University of Chinese Medicine, China

^*Correspondance to: Nan Li 

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Abstract:

Introduction: Gitelman Syndrome (GS) is a hypokalemic metabolic alkalosis with significant hypomagnesemia, and low urinary calcium excretion and is associated with a biallelic inactivating mutations of the SLC12A3 gene. Congenital Chloride-Losing Diarrhea (CCLD) is characterized by watery diarrhea with a high level of fecal Cl−, metabolic alkalosis, and electrolyte alterations and is caused by mutations in the SLC26A3 gene, which encodes the intestinal Cl-/HCO3- exchanger. Both GS and CCLD are rare. We herein report a case combined with both GS and CCLD. Methods: A 24-year-old female patient was hospitalized for evaluation because of recurrent hypokalemia, and numbness in hands, feet, and chest. We first performed clinical manifestation and biochemical examination and then carried out genomic DNA sequencing analysis. Results: The heterozygote variants of SLC12A3 (c.1456G>A, p.D486N), SLC26A3 (c.632G>C, p.S211T), CFTR (c.480T>G, p.I160M) and CLDN16 (c.458T>C, p.I153T) were identified and the related protein structures were analyzed. SLC12A3 gene mutation caused a decrease in the recovery of Na+, Cl- and K+ in the distal convoluted tubules of kidneys, while the SLC26A3 gene mutation led to a decreased absorption of Cl- and K+ into blood circulation and an increase in fecal excretion. Conclusion: We have diagnosed the case with GS and CCLD owning to defective SLC12A3 and SLC26A3 and discussed the clinical phenotypes in this case, mainly including hypokalemia and watery diarrhea.

Keywords:

Congenital chloride diarrhea; Gitelman syndrome; SLC12A3; SLC26A3

Cite the Article:

Nan Li, Shu Zhang, Jingbo Zhou, Yue Zhao, Xiqiao Zhou, Jiangyi Yu, et al. Gitelman Syndrome Combined with Congenital Chloride Losing Diarrhea Owning to Defective SLC12A3 and SLC26A3. Ann Clin Case Rep. 2023; 8: 2537..