[Renal tubular acidosis and perception deafness. Apropos of a familial form]

Area of Science:

• Pediatric Nephrology
• Genetics
• Otolaryngology

Background:

• Primary distal tubular acidosis (type 1) is a renal tubular disorder affecting acid excretion.
• Sensorineural deafness is a hearing impairment that can be congenital or acquired.

Observation:

• Two siblings presented with failure to thrive in infancy, diagnosed with primary distal tubular acidosis.
• Sensorineural deafness was a concurrent manifestation in both affected children.
• Treatment with bicarbonate supplementation led to catch-up growth.

Findings:

• The condition exhibited autosomal recessive inheritance, distinguishing it from isolated distal tubular acidosis.
• Sensorineural deafness is a consistent feature of this familial syndrome.
• Early intervention with bicarbonate is effective for metabolic correction and growth.

Implications:

• This case highlights a distinct autosomal recessive syndrome combining renal tubular dysfunction and deafness.
• Prompt diagnosis and management of acidosis and hearing loss are essential for optimal neurodevelopmental outcomes.
• Genetic counseling is recommended for families with affected individuals.