Most patients show growth and mental retardation.
Nephrocalcinosis and hypercalcinuria occur in some cases. Hypertrophy and hyperplasia of the juxtaglomerular cells of the kidneys, nephrocalcinosis, renal potassium wasting, and faulty chloride reabsorption in the loop of Henle. Hyperactive renin-angiotensin system, increased concentrations of aldosterone and angiotensin II, high urinary kallikrein, hypokalemia, hyperchloremic alkalosis, azotemia, elevated plasma bradykinin, and occasional hypomagnesemia. Transmitted as an autosomal recessive trait.