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

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Abstract

Gitelman syndrome is a rare, autosomal recessively inherited tubulopathy manifesting with hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Common symptoms include fatigue, myalgia, reduced performance capacity, tetany, paresthesia, and delayed growth. However, as reported in the literature, diagnosis in some patients is prompted by an incidental finding of hypokalemia. GS develops due to mutations in the SLC12A3 gene, which encodes the thiazide-sensitive Na-Cl cotransporter. Many variants in the SLC12A3 gene causing GS have been reported in literature. A new pathogenic homozygous mutation (c.2612G > T), absence of hypomagnesemia, and accompanying autoimmune thyroiditis are remarkable in our patient. There are a few Gitelman syndrome cases that are complicated with autoimmune thyroiditis in the literature. In this study, we present a case of Gitelman syndrome with a novel homozygous mutation and accompanying autoimmune thyroiditis and review of the literature.

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Abbreviations

GS:

Gitelman syndrome

BS:

Bartter syndrome

NCC:

Na-Cl cotransporter

CKD:

Chronic kidney disease

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Authors and Affiliations

  1. Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Kocamustafapasa Street No:53 Fatih, 34098, Istanbul, Turkey

    Oguzhan Koca & Isil Bavunoglu

  2. Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey

    Mustafa Tarık Alay, Aysel Kalayci Yigin & Mehmet Seven

  3. Division of Nephrology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey

    Ahmet Murt

Authors
  1. Oguzhan Koca
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  2. Mustafa Tarık Alay
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  4. Aysel Kalayci Yigin
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  5. Mehmet Seven
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  6. Isil Bavunoglu
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Correspondence to Oguzhan Koca.

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Koca, O., Alay, M.T., Murt, A. et al. A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature. CEN Case Rep (2024). https://doi.org/10.1007/s13730-023-00845-z

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  • DOI: https://doi.org/10.1007/s13730-023-00845-z

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