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Definition

A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness.

Acronym

BARTS4B

Synonyms

Bartter syndrome 4B
BSND
Infantile Bartter syndrome with sensorineural deafness

Keywords

Deafness
Bartter syndrome