Renal tubular acidosis with deafness
Other Names for this Disease
- 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
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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. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.Renal tubular acidosis with deafness is characterized by kidney (renal) problems and
Last updated: 8/13/2015
- 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.
- 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.
- Genetics Home Reference (GHR) contains information on Renal tubular acidosis with deafness. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.