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Infantile Bartter syndrome with deafness type 4
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Infantile Bartter syndrome with deafness type 4

Clinical feature: 

Definition: Infantile Bartter syndrome is an autosomal recessive disease caused either by mutation of the BSND gene or by simultaneous mutation of CLCNKA and CLCNKB genes.

Epidemiology: Although exact figures still unknown and difficult to obtain, the the incidence is thought between 1 in 50,000 to 1 in 100,000.

Systematic link table: 

Bartter syndrome
Antenatal Bartter syndrome type 1
SLC12A1
Antenatal Bartter syndrome type 2
KCNJ1
Classic Bartter syndrome
CLCNKB
Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB

Literature: 

Birkenhäger R et al. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Schlingmann KP et al. (2004) Salt wasting and deafness resulting from mutations in two chloride channels.
Estévez R et al. (2001) Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.