Bartter syndrome type 3 (classic Bartter syndrome)

Pathology

• often severe intravascular volume depletion due to renal salt-wasting associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, & normal serum Mg+2

Genetics

• autosomal recessive
• mutation in CLCNKB chloride channel

Clinical manifestations

• hyovolemia
• hypotension

Laboratory

• serum bicarbonate: alkalosis
• serum K+: hypokalemia
• serum Mg+2: normal
• urine calcium: hypercalciuria
• arterial blood gas: metabolic alkalosis

More general terms

• Bartter syndrome

Additional terms

• barttin (BSND, BART)
• chloride channel protein ClC-Kb; chloride channel Kb; ClC-K2 (CLCNKB)

Database

• OMIM: https://mirror.omim.org/entry/241200
• OMIM: https://mirror.omim.org/entry/602023
• OMIM: https://mirror.omim.org/entry/607364