Inheritance of an Autosomal Recessive Disorder, Gitelman's Syndrome, Across Two Generations in One Family

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

doi:10.2169/internalmedicine.50.4354

CASE REPORTS

Inheritance of an Autosomal Recessive Disorder, Gitelman's Syndrome, Across Two Generations in One Family

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

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Keywords: Gitelman's syndrome, thiazide, diuretic test, two generations

JOURNAL OPEN ACCESS

2011 Volume 50 Issue 11 Pages 1211-1214

DOI https://doi.org/10.2169/internalmedicine.50.4354

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Abstract

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 hypokalemia and hypocalciuria. The genetic analysis showed he had an L849H mutation in addition to T180K. The present pedigree showed an extremely rare case. Diuretic tests are useful diagnostic methods, and genetic testing is necessary for precise evaluation of complicated cases as in this family.

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