Renal tubular acidosis with deafness

Disease Overview

Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern.[9495] Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.[9496]

Synonyms

• Renal tubular acidosis, distal, with progressive nerve deafness
• Autosomal recessive distal renal tubular acidosis with deafness
• AR dRTA with hearing loss
• AR dRTA wth deafness
• Autosomal recessive distal renal tubular acidosis with hearing loss
• Renal tubular acidosis type 1b
• Renal tubular acidosis progressive nerve deafness
• RTA with progressive nerve deafness
• Renal tubular acidosis with progressive nerve deafness
• Renal tubular acidosis, autosomal recessive, with progressive nerve deafness