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Bartter syndrome
A renal disorder due to a defect in active chloride reabsorption in the loop of Henle; characterized by primary juxtaglomerular cell hyperplasia with secondary hyperaldosteronism, hypokalemic alkalosis, hypercalciuria, elevated renin or angiotensin levels, normal or low blood pressure, and growth retardation; edema is absent. Autosomal recessive inheritance, caused by mutation in either the Na-K-2Cl cotransporter gene (SLC12A1) on chromosome 15q or the K(+) channel gene (KCNJ1) on 11q. | |
