Bartter's syndrome: an autosomal recessive disorder? Study of four patients in one generation of the same pedigree and their relatives.

The diagnosis of Bartter's syndrome was established in four patients of one generation of the same pedigree. The proband affected with Bartter's syndrome appeared to have a brother and two first cousins, who are siblings, with the same condition. All four patients had hypokalemia, hyperreninemia, normal blood pressure and a diminished pressor sensitivity to angiotensin II. In contrast to most cases of Bartter's syndrome, the urinary excretion of prostaglandin (PG) E2 was not elevated. The parents and the siblings of the patients were studied in order to detect asymptomatic carriers of the disorder. Abnormal serum potassium levels, plasma renin activities, urinary PG excretions and pressor responses to angiotensin infusion were not found in these relatives. Although consanguinity could not be established between the parents of any of the couples, the distribution of the disorder in the two related families confirms the hypothesis that genetic factors play an important role in Bartter's syndrome and that it is inherited as an autosomal recessive trait.