Scholarlink

Background <p>Gitelman syndrome (GS) is a rare, recessively inherited tubulopathy resulting from inactivating mutations in the SLC12A3 gene. While there have been reports of GS coexisting with autoimmune thyroid diseases (AITD) in a limited number of cases, the potential link between mutant SLC12A3 gene and the development of both diseases remains uncertain.</p> Case presentation <p>We report here a Chinese family with a rare heterozygous mutation in exon 26 of the SLC12A3 gene, along with AITD. We also reviewed mutations of the SLC12A3 gene in previously reported cases of coexisting conditions. The proband, a 57-year-old Chinese woman, presented with recurrent hypokalemia and metabolic alkalosis. Her brother also had a similar medical history and was diagnosed with hyperthyroidism. Blood samples were collected from her and her immediate family members for biochemical indices, thyroid function, and target gene sequencing. Genetic testing revealed a c.3053 G &gt; A (p. R1018Q) mutation in exon 26 of the SLC12A3 gene in both the proband, her brother, and her son. Similar to her brother, the proband was also diagnosed with AITD and hyperthyroidism. However, her son, who had AITD but normal thyroid function, did not exhibit any symptoms of GS. In the genetic review, more than 20 mutations of the SLC12A3 gene were identified. These cases were nearly all reported in individuals from China and Japan, with genetic mutations being distributed nonspecifically across various gene regions.</p> Conclusions <p>Specific mutations of the SLC12A3 gene correlating with the clinical phenotype were not identified in East Asian GS patients. Nevertheless, it is advisable to perform essential laboratory tests related to AITD to assess the possible co-occurrence of these two conditions.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Gitelman syndrome combined with autoimmune thyroid disease in a Chinese family: a case report and genetic review

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年7月7日

查看全文
  • Chuping Chen,
  • Ping Zhu,
  • Bin Xie,
  • Qiong Feng,
  • Jianmin Ran

摘要

Background

Gitelman syndrome (GS) is a rare, recessively inherited tubulopathy resulting from inactivating mutations in the SLC12A3 gene. While there have been reports of GS coexisting with autoimmune thyroid diseases (AITD) in a limited number of cases, the potential link between mutant SLC12A3 gene and the development of both diseases remains uncertain.

Case presentation

We report here a Chinese family with a rare heterozygous mutation in exon 26 of the SLC12A3 gene, along with AITD. We also reviewed mutations of the SLC12A3 gene in previously reported cases of coexisting conditions. The proband, a 57-year-old Chinese woman, presented with recurrent hypokalemia and metabolic alkalosis. Her brother also had a similar medical history and was diagnosed with hyperthyroidism. Blood samples were collected from her and her immediate family members for biochemical indices, thyroid function, and target gene sequencing. Genetic testing revealed a c.3053 G > A (p. R1018Q) mutation in exon 26 of the SLC12A3 gene in both the proband, her brother, and her son. Similar to her brother, the proband was also diagnosed with AITD and hyperthyroidism. However, her son, who had AITD but normal thyroid function, did not exhibit any symptoms of GS. In the genetic review, more than 20 mutations of the SLC12A3 gene were identified. These cases were nearly all reported in individuals from China and Japan, with genetic mutations being distributed nonspecifically across various gene regions.

Conclusions

Specific mutations of the SLC12A3 gene correlating with the clinical phenotype were not identified in East Asian GS patients. Nevertheless, it is advisable to perform essential laboratory tests related to AITD to assess the possible co-occurrence of these two conditions.