BARTTERS-SYNDROME IN 2 SUCCESSIVE GENERATIONS OF A SAUDI FAMILY

Bartter's syndrome (BS) is characterized by primary renal tubular hypo kalemic metabolic alkalosis, hyperreninemia, hyperaldosteronism and no rmal blood pressure. The parents and siblings of a BS patient were eva luated for renal tubular function. The father and all 9 siblings of th e patient had biochemical features of BS. His mother, a first cousin o f his father, had hypokalemia and hyperkaluria but no other features o f BS and could have been a 'carrier'. The mother and all 9 siblings we re asymptomatic. Including the patient, hypomagnesemia was present in 8 of 12 family members. Therapy with a combination of potassium chlori de and magnesium increased the serum potassium and magnesium levels to within normal limits. The familial occurrence in BS is well known, an d reports of the disorder in siblings and the first generation of chil dren of consanguineous marriages and normal parents have been taken to suggest an autosomal recessive inheritance. One affected parent and i nvolvement of all siblings of the patient raise the possibility of an autosomal dominant inheritance in the present family.