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Progressive sensorineural hearing loss in association with distal renal tubular acidosis
M T Brown1, M J Cunningham, J R Ingelfinger
1Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston 02114.
Insights
This study documents progressive sensorineural hearing loss in siblings with infantile distal renal tubular acidosis. Early audiology evaluations are crucial for children with this condition.
Area of Science:
- Genetics and Audiology
- Pediatric Nephrology
Background:
- Distal renal tubular acidosis (dRTA) with sensorineural hearing loss is an autosomal recessive inherited syndrome.
- It presents in infantile and adolescent forms, with the infantile type showing more severe hearing loss and failure to thrive.
Observation:
- This report details the first documentation of progressive sensorineural hearing loss.
- Progression was observed in two siblings with the common infantile variant of dRTA.
Findings:
- Infantile dRTA is associated with progressive sensorineural hearing loss.
- The severity of hearing loss can worsen over time in affected children.
Implications:
- Children diagnosed with distal renal tubular acidosis require regular audiological assessments.
- Early intervention with amplification and educational support is recommended for hearing impairment.
Abstract:
The autosomal recessive inherited syndrome of distal renal tubular acidosis and sensorineural hearing loss may present in one of two distinct fashions. The rare adolescent form is characterized by mild renal tubular acidosis, mild to moderate sensorineural hearing loss, and otherwise normal growth and development. The more common infantile type typically presents in the first year of life with failure to thrive, acidosis, and a more severe sensorineural hearing loss. In this report, progression of sensorineural hearing loss is documented for the first time in two siblings with the infantile variant. This association suggests that all children with distal renal tubular acidosis should undergo sequential audiologic evaluations with the institution of appropriate amplification and educational intervention as needed.