Bartter Syndrome, Type 3

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive inherited disorder caused by mutation(s) in the CLCNKB gene, encoding chloride channel protein CIC-Kb. It is characterized by impaired reabsorption of sodium, chloride, and potassium in the kidneys, and presents with signs and symptoms that include renal salt wasting, metabolic alkalosis, hypokalemia, hypochloremia, hypotension, dehydration, growth failure, muscle weakness, and excessive urination. Unlike other types of Bartter syndrome, this variant is further distinguished by the absence of nephrocalcinosis.

**Synonyms:** - BARTS3