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Definition

A 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. BARTS4A is associated with sensorineural deafness.

Acronym

BARTS4A

Synonyms

Bartter syndrome, neonatal, with sensorineural deafness
BSND
Hyperprostanglandin E syndrome 4
Hypokalemic alkalosis with hypercalciuria antenatal 4
Infantile Bartter syndrome with sensorineural deafness
Sensorineural deafness with mild renal dysfunction

Keywords

Deafness
Bartter syndrome

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.