Bartter syndrome is a rare autosomal recessive kidney disease characterized by the kidneys’ inability to reabsorb chloride (salt). Failure to reabsorb chloride leads to excessive salt delivery to the distal tubules of the kidney resulting in excessive salt and water loss from the body. This disease arises on average in 1.2-1.7 cases per 100,000 persons and is caused by mutations in the genes coding for renal transporters. Patients with Bartter syndrome may have symptoms of the disease in the first two years of life, but are often diagnosed at school age or later. Diagnosis is currently based on clinical symptoms and genetic testing is not available. Current treatments consist of supplements to replace loss of magnesium and potassium and therapeutics to help control disease symptoms.
Researchers at the University of Michigan have identified a novel gene associated with Barterr’s syndrome, barttine (BSND). This gene has critical roles in auditory function, renal salt handling, and integrity of renal tissue architecture. It encodes a novel protein (barttin) that may function as a regulator for ion transport proteins involved in BSND, or else, as a novel transporter or channel itself. The present invention provides assays for the detection of BSND and barttin polymorphisms and mutations associated with disease states.
- Diagnostic for Bartter syndrome
- Identification of the molecular basis of Bartter syndrome