南予医学雑誌　第16巻

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桑原、他：Gitelman症候群の１例南予医誌　Vol.16　No. １　2015－95－Abstract　A 6-year-old boy was admitted to our hospital because of persistent fever. Laboratory studies on admission revealed hypokalemia, hypocalciuria, and elevated levels of plasma aldosterone and renin, which led us to consider salt-losing tubulopathy. Poor diuretic res-ponses to thiazide and a loop diuretic indicated that the patient could have type 3 Bartter syndrome (BS) or Gitelman syndrome (GS). A genetics analysis showed compound R642C and V677M heterozygous mutations in SLC12A3, leading to the diagnosis of GS. This case shows that a CLCNKB and SLC12A3 gene analysis should be performed to distinguish type 3 BS from GS.（Nan-yo Med J 2015; 16: 89-95.）Genetics analysis of a patient with Gitelman syndrome to distinguish from type 3 Bartter syndromeYu KUWABARA1)2), Koji NAGATANI1), Michiko OKAMOTO1),Izumi TERAOKA1),Takeshi NAKANO1)3), and Masatoshi HAYASHI1) 1) Department of Pediatrics, Uwajima City Hospital2)Department of Pediatrics, Ehime Prefectural Niihama Hospital3)Department of Pediatrics, Ehime Prefectural Central Hospitaltens Res. 2004;27:327-331.８）　 Seyberth HW: An improved terminol-ogy and classification of Bartter-like syndromes. Nat Clin Pract Nephrol. 2008;4:560-567.９）　 Seyberth HW, Schlingmann KP: Bart-ter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol. 2011;26:1789-1802.