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

DOI Web Site 参考文献26件
  • Yagi Hiroki
    Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan
  • Yahata Kensei
    Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan
  • Usui Takeshi
    Clinical Research Institute, Center for Endocrine and Metabolic Diseases, National Hospital Organization Kyoto Medical Center, Japan
  • Hasegawa Chinatsu
    Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan
  • Seta Koichi
    Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan
  • Sugawara Akira
    Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan

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抄録

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.<br>

収録刊行物

  • Internal Medicine

    Internal Medicine 50 (11), 1211-1214, 2011

    一般社団法人 日本内科学会

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