title: Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family.
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.
authors.affiliation: Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Yagi
authors.forename: Kensei
authors.initials: K
authors.lastname: Yahata
authors.forename: Takeshi
authors.initials: T
authors.lastname: Usui
authors.forename: Chinatsu
authors.initials: C
authors.lastname: Hasegawa
authors.forename: Koichi
authors.initials: K
authors.lastname: Seta
authors.forename: Akira
authors.initials: A
authors.lastname: Sugawara
mesh_terms: D000293:Adolescent; D005260:Female; D005820:Genetic Testing; D053579:Gitelman Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011955:Receptors, Drug / Q000235:genetics; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics
chemical_list: D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters