Renal tubular acidosis and deafness: report of a large family.
The syndrome of distal renal tubular acidosis (dRTA) and sensorineural deafness has been reported in consanguineous families and is believed to be inherited in an autosomal recessive pattern. All affected patients also have nephrocalcinosis. We report here a family with 6 of 12 children affected with this syndrome. The parents are unaffected and are not blood related. This is the largest family described to date with distal renal tubular acidosis and sensorineural deafness.
Bajaj
G
G
Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75235, USA.
Quan
A
A
D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009397:Nephrocalcinosis / Q000150:complications / Q000235:genetics