To make a diagnosis criteria for Bartter's syndrome

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Bartter's syndrome comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of four genes that code for renal transporters and channels as responsible for Bartter's syndrome has resulted in new insights into renal salt handling diuretic action and blood-pressure regulation. We have identified three homozygous mutations (2311 A deletion, T485S, R881C) in NKCC2 gene which codes thiazide-sensitive Na-Cl cotransporter and in three homozygous mutations (65 base deletion, Q29X, A 799V) in CLCNKB gene which codes chloride channel Kb.We clarified that patients who manifest hypomagnesaemia, hypokalemia and alkalemia have CLCNKB gene mutations. We also made new diagnosis criteria for Banter's syndrome, which will be useful for the diagnosis of heterogeneous Bartter's syndrome.