A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature

Author:

Koca OguzhanORCID,Alay Mustafa Tarık,Murt Ahmet,Kalayci Yigin Aysel,Seven Mehmet,Bavunoglu Isil

Publisher

Springer Science and Business Media LLC

Reference33 articles.

1. Gitelman H, Graham J, Welt L. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians. 1966;79:221–35.

2. Hsu Y-J, Yang S-S, Chu N-F, Sytwu H-K, Cheng C-J, Lin S-H. Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure. Nephrol Dial Transplant. 2009;24:1170–5.

3. Aoi N, Nakayama T, Tahira Y, Haketa A, Yabuki M, Sekiyama T, et al. Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman’s syndrome. Endocrine. 2007;31:149–53.

4. Dong H, Lang Y, Shao Z, Li L, Shao L. Coexistence of Gitelman’s syndrome and thyroid disease: SLCl2A3 gene analysis in two patients. Chin J Endocrinol Metab. 2010;26:395–8.

5. Xu X, Sun M, Liu X, Chen H, Xu K, Tang W. Clinical feature and genetic analysis of Gitelman’s syndrome accompanied by autoimmune thyroid disease. Chin J Endocrinol Metab. 2013;29:50–4.

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