ArticleCEN case reports2017
Inherited, not acquired, Gitelman syndrome in a patient with Sjögren's syndrome: importance of genetic testing to distinguish the two forms.
Article in CEN case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Renal Disease in Primary Sjögren's Syndrome.Rheumatology and therapy · 2021Review
- Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.Clinical kidney journal · 2021Review
- Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses.Nature communications · 2020Article
- HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.CEN case reports · 2020Article
- Systemic lupus erythematosus complicated by a Gitelman-like syndrome in an 8-year-old girl.CEN case reports · 2020Article
- Interpreting an apoptotic corpse as anti-inflammatory involves a chloride sensing pathway.Nature cell biology · 2019Article
- A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island.Journal of rural medicine : JRM · 2019Article
- Novel heterozygous missense mutation ofWorld journal of clinical cases · 2019Article
- A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.BMC nephrology · 2018Review
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gitelman syndrome (GS) is an autosomal recessive, salt-losing renal tubulopathy caused by mutations in the SLC12A3 gene; however, it can also be acquired in patients with autoimmune disease, especially in those with Sjögren's syndrome. Differentiating between the inherited and acquired forms of GS is clinically difficult. We report a case of inherited, not acquired, GS in a patient with Sjögren's syndrome. A 41-year-old woman, who had been diagnosed with Sjögren's syndrome at 27-years-old, had shown chronic hypokalemia (2.5-3.5 mmol/L). Laboratory tests showed hypokalemic alkalosis, hypomagnesemia, and hypocalciuria, corresponding to GS. Although acquired GS associated with Sjögren's syndrome was initially suspected, a genetic test identified a novel homozygous mutation of c.1336-2A > T in the SLC12A3 gene, which resulted in aberrant splicing in the SLC12A3 transcript with the exclusion of exons 11 and 12. Thus, the GS was diagnosed as not the acquired but the inherited form. In the diagnosis of GS in patients with autoimmune disease, genetic testing of SLC12A3 is essential for differentiating the two forms.
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