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

CAS  PubMed  Google Scholar 

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.

Article  CAS  PubMed  Google Scholar 

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.

Article  CAS  PubMed  Google Scholar 

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.

CAS  Google Scholar 

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.

CAS  Google Scholar 

Zha B, Zheng P, Liu J, Huang X. Coexistence of Graves’ Disease in a 14-year-old young girl with Gitelman Syndrome. Clin Endocrinol (Oxf). 2015;83:995–7.

Article  PubMed  Google Scholar 

Baldane S, Ipekci SH, Celik S, Gundogdu A, Kebapcilar L. Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman’s syndrome. Indian J Nephrol. 2015;25:103–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mizokami T, Hishinuma A, Kogai T, Hamada K, Maruta T, Higashi K, et al. Graves’ disease and Gitelman syndrome. Clin Endocrinol (Oxf). 2016;84:149–50.

Article  PubMed  Google Scholar 

Zhou H, Liang X, Qing Y, Meng B, Zhou J, Huang S, et al. Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review. BMC Endocr Disord. 2018;18:82.

Article  PubMed  PubMed Central  Google Scholar 

Liu S, Ke J, Zhang B, Yu C, Feng Y, Zhao D. A novel compound heterozygous variant of SLC12A3 gene in a pedigree with Gitelman syndrome co-existent with thyroid dysfunction. Endocr Pract. 2018;24:889–93.

Article  PubMed  Google Scholar 

Oba T, Kobayashi S, Nakamura Y, Nagao M, Nozu K, Fukuda I, et al. A case of Gitelman syndrome that was difficult to distinguish from hypokalemic periodic paralysis caused by graves’ disease. J Nippon Med Sch. 2019. https://doi.org/10.1272/jnms.JNMS.2019_86-505.

Article  PubMed  Google Scholar 

Que C, Zhang J, Chen Y, Hou N. A case of Gitelman syndrome with Hashimoto’s thyroiditis. Shanghai Med J. 2020;43:762–4.

Google Scholar 

Peng B, Wang H, Yang Y, Xu W, Yuan G. A case of Gitelman syndrome with Graves disease as initial diagnosis. Chin J Intern Med. 2020;59:382–4.

CAS  Google Scholar 

Wang L, Mou L, Zhao H, Zhu H. A case of Gitelman syndrome with hyperthyroidism. Chin J Emerg Med. 2020;29:1375–7.

Google Scholar 

Song M, Wang N, Li Z, Yin P. Clinical feature and gene mutation analysis of 2 cases of hyperthyroidism complicated with Gitelman syndrome. Jiangsu Med J. 2021;47:424–8.

Google Scholar 

Yu S, Wang C. Genetic analysis of Gitelman syndrome: co-existence with hyperthyroidism in a two-year-old boy. Endocr Metab Immune Disord Drug Targets. 2021;21:1524–30.

Article  CAS  PubMed  Google Scholar 

Zhang J-H, Ruan D-D, Hu Y-N, Ruan X-L, Zhu Y-B, Yang X et al. Review and analysis of two Gitelman syndrome pedigrees complicated with proteinuria or Hashimoto’s thyroiditis caused by compound heterozygous SLC12A3 mutations. 2021. https://doi.org/10.1155/2021/9973161

Qin Y-Z, Liu Y-M, Wang Y, You C, Li L-N, Zhou X-Y, et al. Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: a case report and literature review. World J Clin Cases. 2022;10:7483–94.

Article  PubMed  PubMed Central  Google Scholar 

Xu J, He J, Xu S, Wang R, Peng N, Zhang M. Gitelman syndrome with Graves’ disease leading to rhabdomyolysis: a case report and literature review. BMC Nephrol. 2023;24:123.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D. Inherited tubulopathies of the kidney: insights from genetics. Clin J Am Soc Nephrol. 2021;16:620–30.

Article  CAS  PubMed  Google Scholar 

Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008;3:22. https://doi.org/10.1186/1750-1172-3-22.

Article  PubMed  PubMed Central  Google Scholar 

Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O. Gitelman’s syndrome: towards genotype-phenotype correlations? Pediatr Nephrol. 2007;22:326–32.

Article  PubMed  Google Scholar 

Shen Q, Chen J, Yu M, Lin Z, Nan X, Dong B, et al. Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children. Clin Genet. 2021;99:558–64.

Article  CAS  PubMed  Google Scholar 

Zhong F, Ying H, Jia W, Zhou X, Zhang H, Guan Q, et al. Characteristics and follow-up of 13 pedigrees with Gitelman syndrome. J Endocrinol Invest. 2019;42:653–65.

Article  CAS  PubMed  Google Scholar 

Fujimura J, Nozu K, Yamamura T, Minamikawa S, Nakanishi K, Horinouchi T, et al. Clinical and genetic characteristics in patients with Gitelman syndrome. Kidney Int Rep. 2019;4:119–25.

Article  PubMed  Google Scholar 

Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg E-J, et al. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Eur J Hum Genet. 2012;20:263–70.

Article  CAS  PubMed  Google Scholar 

Lin S-H, Shiang J-C, Huang C-C, Yang S-S, Hsu Y-J, Cheng C-J. Phenotype and genotype analysis in Chinese patients with Gitelman’s syndrome. J Clin Endocrinol Metab. 2005;90:2500–7.

Article  CAS  PubMed  Google Scholar 

Lo Y-F, Nozu K, Iijima K, Morishita T, Huang C-C, Yang S-S, et al. Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman’s syndrome. Clin J Am Soc Nephrol. 2011;6:630–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tseng M-H, Yang S-S, Hsu Y-J, Fang Y-W, Wu C-J, Tsai J-D, et al. Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation. J Clin Endocrinol Metab. 2012;97:E1478–82.

Article  CAS  PubMed  Google Scholar 

Zeber-Lubecka N, Suchta K, Kulecka M, Kluska A, Piątkowska M, Dabrowski MJ, et al. Exome sequencing to explore the possibility of predicting genetic susceptibility to the joint occurrence of polycystic ovary syndrome and Hashimoto’s thyroiditis. Front Immunol. 2023;14:1193293.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gong L, Liu B, Wang J, Pan H, Qi A, Zhang S, et al. Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto’s thyroiditis. BMC Endocr Disord. 2018;18:76.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lo MS, Towne M, VanNoy GE, Brownstein CA, Lane AA, Chatila TA, et al. Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. J Autoimmun. 2018;86:116–9.

Article  CAS  PubMed  Google Scholar