Bartter syndromes are defined as a family of inherited recessive autosomal heterogeneous renal tubular disorders, or tubulopathies. All disease variants follow autosomal recessive inheritance and share the following characteristic clinical features: renal salt wasting, hypokalemic metabolic alkalosis, normotensive hyperreninemic hyperaldosteronism, and hyperplasia of the juxtaglomerular apparatus.
Bartter syndrome type 3 presents with sequeale of pronounced hypokalemia and marked salt loss resulting in muscle weakness and volume contraction during the first years of life. Nephrocalcinosis is an uncommon finding, and investigation of renal concentrating ability is impaired to a lesser extent than in other variants of Bartter syndrome. Among other features, subnormal response to angiotensin II infusion and a pitressin concentration defect with mental and physical growth delay are common.