Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Renal tubular acidosis with deafness


Other Names for this Disease
  • AR dRTA with deafness
  • AR dRTA with hearing loss
  • AR dRTA wth deafness
  • Autosomal recessive distal renal tubular acidosis with deafness
  • Autosomal recessive distal renal tubular acidosis with hearing loss
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.[1] Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.[2]
Last updated: 8/13/2015

References

  1. Renal tubular acidosis with deafness. Genetics Home Reference. March 2014; http://ghr.nlm.nih.gov/condition/renal-tubular-acidosis-with-deafness. Accessed 8/13/2015.
  2. Renal Tubular Acidosis Page. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). September 9, 2010; http://www.niddk.nih.gov/health-information/health-topics/kidney-disease/renal-tubular-acidosis-rta/Pages/facts.aspx. Accessed 8/13/2015.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

Basic Information

  • Genetics Home Reference (GHR) contains information on Renal tubular acidosis with deafness. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
Other Names for this Disease
  • AR dRTA with deafness
  • AR dRTA with hearing loss
  • AR dRTA wth deafness
  • Autosomal recessive distal renal tubular acidosis with deafness
  • Autosomal recessive distal renal tubular acidosis with hearing loss
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.