Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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.

Symptoms

Deafness
Sensorineural deafness in infantile Bartter syndrome results from endolyphatic electrolyte dysbalance.
Polyhydramnios
Polyhydramnios can be the first, antenatal, Symptom.

Systematic

Bartter syndrome
Antenatal Bartter syndrome type 1
Antenatal Bartter syndrome type 2
Classic Bartter syndrome
Hypercalciuric hypocalcemia 1
Hypercalciuric hypocalcemia 2
Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB
Transient antenatal Bartter syndrome

References:

1.

Schlingmann KP et al. (2004) Salt wasting and deafness resulting from mutations in two chloride channels.

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2.

Birkenhäger R et al. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

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3.

Estévez R et al. (2001) Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.

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Update: Sept. 26, 2018