ReviewBMC endocrine disorders2018
Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review.
Review in BMC endocrine disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review.Frontiers in genetics · 2026Article
- RNA-binding proteins regulate immune-related alternative splicing in inherited salt-losing tubulopathies.Orphanet journal of rare diseases · 2025Article
- A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.CEN case reports · 2024Review
- Investigation of Gene Networks in Three Components of Immune System Provides Novel Insights into Immune Response Mechanisms againstAnimals : an open access journal from MDPI · 2023Article
- Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.BMC nephrology · 2023Review
- Novel compound heterozygous mutation ofWorld journal of clinical cases · 2022Article
- A novel mutation ofSAGE open medical case reports · 2022Article
- Unmasking of Gitelman Syndrome during Pregnancy in an Adolescent with Thyrotoxic Crisis.Pediatric reports · 2021Article
- A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.Journal of endocrinological investigation · 2021Article
- Hypokalemic paralysis in hyperthyroidism: Not all that glitter are gold.Clinical case reports · 2021Article
- Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound HeterozygousBioMed research international · 2021Article
- Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses.Nature communications · 2020Article
- Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review.Case reports in medicine · 2020Article
- Novel heterozygous missense mutation ofWorld journal of clinical cases · 2019Article
- A tripleHippokratiaArticle
- Concurrent Gitelman Syndrome-like Tubulopathy and Grave's Disease.Indian journal of nephrologyArticle
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundGitelman syndrome (GS) is an inherited autosomal recessive renal tubular disorder characterized by low levels of potassium and magnesium in the blood, decreased excretion of calcium in the urine, and elevated blood pH. GS is caused by an inactivating mutation in the SLC12A3 gene, which is located on the long arm of chromosome 16 (16q13) and encodes a thiazide-sensitive sodium chloride cotransporter (NCCT). CASE PRESENTATION: A 45-year-old man with Graves' disease complicated by paroxysmal limb paralysis had a diagnosis of thyrotoxic periodic paralysis for 12 years. However, his serum potassium level remained low despite sufficiently large doses of potassium supplementation. Finally, gene analysis revealed a homozygous mutation in the SLC12A3 gene. After his thyroid function gradually returned to normal, his serum potassium level remained low, but his paroxysmal limb paralysis resolved.
conclusionsGS combined with hyperthyroidism can manifest as frequent episodes of periodic paralysis; to date, this comorbidity has been reported only in eastern Asian populations. This case prompted us to more seriously consider the possibility of GS associated with thyroid dysfunction.
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