Bartter's syndrome associated with severe retinopathy and presenting as pseudohypoaldosteronism in a newborn

Various pathophysiological explanations for Bartter's syndrome have been put forward since the condition was first described in 1962. It is currently thought that reduced reabsorption of sodium chloride in the distal tubule of the loop of Henle and the collecting ducts leads to secondary hyperkaluria and hypokalaemic metabolic alkalosis. We describe a 9 1/2-year-old boy with Bartter's syndrome and severe retinopathy whose features may be those of a previously unrecognized disorder.