Treating hearing loss in patients with infantile Bartter syndrome.

OBJECTIVES/HYPOTHESIS: Most existing studies about infantile Bartter syndrome (BS) have focused on renal function, and deafness has not been closely studied. Our objective was to evaluate the treatment of hearing impairment in children with infantile BS and analyze relevant, unexplored issues.

STUDY DESIGN

Retrospective chart review.

METHODS

The present study was conducted in a tertiary referral center over a 20-year period involving children with infantile BS. Demographic factors, general health status, genetic information, features of hearing loss, and the outcome of cochlear implantation as determined mainly by the categories of auditory performance (CAP), as well as imaging of the temporal bones, were evaluated.

RESULTS

Six children with infantile BS were identified, four girls and two boys. One child had terminal renal insufficiency and one had undergone kidney transplantation; all children had several hospital admissions due to renal dysfunction. Sensorineural hearing loss was congenital, bilateral, and profound in all children. Five patients were treated with cochlear implants resulting in improved speech perception and development without any exceptional performance (CAP scores, 4-6), mainly because of the delayed treatment and the comorbidities. Anatomic ear anomalies were not observed in any case.

CONCLUSIONS

Hearing loss in children with infantile BS is congenital and profound but not related to inner ear malformations. Although cochlear implantation results in certain benefits, general health status and delayed referral to cochlear implant centers have a negative impact on speech perception and development.