Infantile Bartter syndrome with deafness type 4
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.
Although exact figures still unknown and difficult to obtain, the the incidence is thought between 1 in 50,000 to 1 in 100,000.
Sensorineural deafness in infantile Bartter syndrome results from endolyphatic electrolyte dysbalance.
Polyhydramnios can be the first, antenatal, Symptom.
Schlingmann KP et al. (2004) Salt wasting and deafness resulting from mutations in two chloride channels.[^]
Birkenhäger R et al. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.[^]
Estévez R et al. (2001) Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.[^]