Bartter disease type 3

A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.

Signs and symptoms

• Hypokalemia
• Hypocalciuria
• Impaired renal tubular reabsorption of chloride
• Generalized muscle weakness
• Hypokalemic metabolic alkalosis
• Abnormal sclera morphology
• Increased urinary potassium
• Increased circulating renin concentration
• Increased circulating aldosterone concentration
• Abnormal retinal vascular morphology

Also known as: BARTS3; Bartter syndrome type 3; classic Bartter syndrome