Renal tubular acidosis (RTA) with deafness is a genetic condition that brings both kidney issues and hearing loss.
The kidneys usually help keep the body’s acid levels in check, but in people with RTA with deafness, the kidneys can’t get rid of enough acid through urine. This causes too much acid to stay in the bloodstream, leading to problems like trouble eating, slow weight gain, poor growth, weak bones, and kidney stones. Babies with this condition might also get dehydrated and vomit. As kids grow up, they often experience hearing loss because of changes in the inner ear, and it usually affects both ears. People with RTA with deafness need ongoing treatment. This involves using medicines to balance out the high acid levels and reduce the risk of kidney stones and other issues. Some may also need potassium supplements. For those with hearing loss, options like hearing aids and cochlear implants are available.
RTA is caused by pathogenic (disease-causing) variants in at least two genes and the test we offer is for the ATP6V1B1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 140 chance to be a carrier.
Other names for this condition are AR dRTA with deafness and renal tubular acidosis type 1b.