Bartter syndrome is seen in a rare group of hereditary disorders that result in a salt-losing nephropathy and metabolic alkalosis.
Inheritance: usually autosomal recessive, less often other
Pathogenesis: salt-losing tubulopathy
Usually presents antenatally or in the neonate period but can occur at any age.
Clinical features:
(1) normal or low blood pressure
(2) variable seizures
(3) growth retardation
(4) polydipsia and polyuria
(5) anorexia
(6) muscle weakness
(7) vomiting
Laboratory findings:
(1) hypochloremia
(2) hypokalemia
(3) metabolic alkalosis
(4) elevated blood renin concentration
(5) elevated blood aldosterone
(6) hypercalciuria
(7) hypomagnesemia
(8) hyponatremia
(9) elevated plasma prostaglandins
There is considerable heterogeneity in the clinical picture associated with different genotypes.
Complications:
(1) nephrocalcinosis
(2) renal dysfunction
(3) dehydration
The diagnosis requires exclusion of Gitelman syndrome and Bartter-like syndromes.
