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Article

Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family.

Internal medicine (Tokyo, Japan) - 1 Jan 2011

Yagi Hiroki, Yahata Kensei, Usui Takeshi, Hasegawa Chinatsu, Seta Koichi, Sugawara Akira

Abstract excerpt

Gitelman's syndrome (GS) is an autosomal recessive disorder; it is rarely inherited over several generations. A 16-year-old boy showed hypokalemia and hypocalciuria. Clinically, he was diagnosed as GS because of diuretic responsiveness to furosemide but not thiazide. Genetic testing disclosed he was a compound heterozygote (T180K/V677M) for the SLC12A3 gene. Unexpectedly, the patient's father also showed...

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PMID: 21628937
DOI: 10.2169/internalmedicine.50.4354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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