Reviewed March 2014
What is renal tubular acidosis with deafness?
Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. Instead, the acids are absorbed back into the bloodstream, and the blood becomes too acidic. This chemical imbalance, called metabolic acidosis, can result in a range of signs and symptoms that vary in severity. Metabolic acidosis often causes nausea, vomiting, and dehydration; affected infants tend to have problems feeding and gaining weight (failure to thrive). Most children and adults with renal tubular acidosis with deafness have short stature, and many develop kidney stones.
The metabolic acidosis that occurs in renal tubular acidosis with deafness may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. Rarely, people with renal tubular acidosis with deafness have episodes of hypokalemic paralysis, a condition that causes extreme muscle weakness associated with low levels of potassium in the blood (hypokalemia).
In people with renal tubular acidosis with deafness, hearing loss caused by changes in the inner ear (sensorineural hearing loss) usually begins between childhood and young adulthood, and gradually gets worse. An inner ear abnormality affecting both ears occurs in most people with this disorder. This feature, which is called enlarged vestibular aqueduct, can be seen with medical imaging. The vestibular aqueduct is a bony canal that runs from the inner ear into the temporal bone of the skull and toward the brain. The relationship between enlarged vestibular aqueduct and hearing loss is unclear. In renal tubular acidosis with deafness, enlarged vestibular aqueduct typically occurs in individuals whose hearing loss begins in childhood.
How common is renal tubular acidosis with deafness?
Renal tubular acidosis with deafness is a rare disorder; its prevalence is unknown.
What genes are related to renal tubular acidosis with deafness?
Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. These genes provide instructions for making proteins that are parts (subunits) of a large protein complex known as vacuolar H+-ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. Because acids are substances that can "donate" protons to other molecules, this movement of protons helps regulate the relative acidity (pH) of cells and their surrounding environment. Tight control of pH is necessary for most biological reactions to proceed properly.
The V-ATPase that includes subunits produced from the ATP6V1B1 and ATP6V0A4 genes is found in the inner ear and in nephrons, which are the functional structures within the kidneys. Each nephron consists of two parts: a renal corpuscle (also known as a glomerulus) that filters the blood, and a renal tubule that reabsorbs substances that are needed and eliminates unneeded substances in urine. The V-ATPase is involved in regulating the amount of acid that is removed from the blood into the urine, and also in maintaining the proper pH of the fluid in the inner ear (endolymph).
Mutations in the ATP6V1B1 or ATP6V0A4 gene impair the function of the V-ATPase complex and reduce the body's capability to control the pH of the blood and the fluid in the inner ear, resulting in the signs and symptoms of renal tubular acidosis with deafness.
Changes in these genes are associated with renal tubular acidosis with deafness.
How do people inherit renal tubular acidosis with deafness?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about diagnosis or management of renal tubular acidosis with deafness?
These resources address the diagnosis or management of renal tubular acidosis with deafness and may include treatment providers.
- Genetic Testing Registry: Renal tubular acidosis with progressive nerve deafness (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0403554)
- MedlinePlus Encyclopedia: Audiometry (https://www.nlm.nih.gov/medlineplus/ency/article/003341.htm)
- MedlinePlus Encyclopedia: Kidney Function Tests (https://www.nlm.nih.gov/medlineplus/ency/article/003435.htm)
You might also find information on the diagnosis or management of renal tubular acidosis with deafness in
Educational resources and Patient support.
General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook.
Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).
To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
Where can I find additional information about renal tubular acidosis with deafness?
You may find the following resources about renal tubular acidosis with deafness helpful. These materials are written for the general public.
MedlinePlus - Health information
- Encyclopedia: Audiometry (https://www.nlm.nih.gov/medlineplus/ency/article/003341.htm)
- Encyclopedia: Distal Renal Tubular Acidosis (https://www.nlm.nih.gov/medlineplus/ency/article/000493.htm)
- Encyclopedia: Hearing Loss (https://www.nlm.nih.gov/medlineplus/ency/article/003044.htm)
- Encyclopedia: Kidney Function Tests (https://www.nlm.nih.gov/medlineplus/ency/article/003435.htm)
- Encyclopedia: Metabolic Acidosis (https://www.nlm.nih.gov/medlineplus/ency/article/000335.htm)
- Encyclopedia: Sensorineural Deafness (https://www.nlm.nih.gov/medlineplus/ency/article/003291.htm)
- Health Topic: Hearing Disorders and Deafness (https://www.nlm.nih.gov/medlineplus/hearingdisordersanddeafness.html)
- Health Topic: Hearing Problems in Children (https://www.nlm.nih.gov/medlineplus/hearingproblemsinchildren.html)
- Health Topic: Kidney Diseases (https://www.nlm.nih.gov/medlineplus/kidneydiseases.html)
Additional NIH Resources - National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases: Renal Tubular Acidosis (http://www.niddk.nih.gov/health-information/health-topics/kidney-disease/renal-tubular-acidosis-rta/Pages/facts.aspx)
- National Institute on Deafness and Other Communication Disorders: Enlarged Vestibular Aqueducts and Childhood Hearing Loss (https://www.nidcd.nih.gov/health/hearing/pages/eva.aspx)
Educational resources - Information pages
- Centers for Disease Control and Prevention: Hearing Loss in Children (http://www.cdc.gov/ncbddd/hearingloss/index.html)
- Centre for Genetics Education (Australia): Deafness and Hearing Loss--Genetic Aspects (http://www.genetics.edu.au/Publications-and-Resources/Genetics-Fact-Sheets/Fact%20Sheet%2060%20%20Deafness%20And%20Hearing%20Loss%20-%20GeneticAspects)
- Gallaudet University: Laurent Clerc National Deaf Education Center (http://www.gallaudet.edu/clerc-center.html)
- KidsHealth: What's Hearing Loss? (http://kidshealth.org/kid/health_problems/sight/hearing_impairment.html)
- Oregon's Deaf and Hard of Hearing Services: Ears and Kidneys: What's the Connection? (http://www.oregon.gov/dhs/odhhs/pages/tadoc/hloss13.aspx)
- Orphanet: Autosomal recessive distal renal tubular acidosis with deafness (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93611)
Patient support - For patients and families
- American Association of Kidney Patients (https://www.aakp.org/)
- American Kidney Fund (http://www.kidneyfund.org/)
- National Association of the Deaf (http://nad.org/)
- National Kidney Foundation (https://www.kidney.org/)
- University of Kansas Genetics Education Center: Deafness and Hard of Hearing (http://www.kumc.edu/gec/support/hearing.html)
- University of Kansas Genetics Education Center: Kidney Conditions (http://www.kumc.edu/gec/support/kidney.html)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Genetic Testing Registry - Repository of genetic test information
- Genetic Testing Registry: Renal tubular acidosis with progressive nerve deafness (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0403554)
- ClinicalTrials.gov - Linking patients to medical research (https://clinicaltrials.gov/ct2/results?cond=%22renal%20tubular%20acidosis%20with%20deafness%22%20OR%20%22Acidosis%2C%20Renal%20Tubular%22)
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28renal%20tubular%20acidosis%5BTIAB%5D%29%20AND%20%28deafness%5BTIAB%5D%29%20AND%20%28autosomal%20recessive%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/267300)
What other names do people use for renal tubular acidosis with deafness?
- AR dRTA with deafness
- AR dRTA with hearing loss
- autosomal recessive distal renal tubular acidosis with deafness
- renal tubular acidosis, autosomal recessive, with progressive nerve deafness
- renal tubular acidosis, distal, with progressive nerve deafness
- renal tubular acidosis type 1b
- renal tubular acidosis with progressive nerve deafness
- RTA with progressive nerve deafness
For more information about naming genetic conditions, see the Genetics Home Reference
Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide)
How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What if I still have specific questions about renal tubular acidosis with deafness?
Ask the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/gard).
What glossary definitions help with understanding renal tubular acidosis with deafness?
autosomal recessive ;
failure to thrive ;
kidney stones ;
sensorineural hearing loss ;
short stature ;
You may find definitions for these and many other terms in the Genetics Home Reference
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- Andreucci E, Bianchi B, Carboni I, Lavoratti G, Mortilla M, Fonda C, Bigozzi M, Genuardi M, Giglio S, Pela I. Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. Pediatr Nephrol. 2009 Nov;24(11):2147-53. doi: 10.1007/s00467-009-1261-3. Epub 2009 Jul 29. (http://www.ncbi.nlm.nih.gov/pubmed/19639346?dopt=Abstract)
- Batlle D, Haque SK. Genetic causes and mechanisms of distal renal tubular acidosis. Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23114896?dopt=Abstract)
- Gil H, Santos F, García E, Alvarez MV, Ordóñez FA, Málaga S, Coto E. Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children. Pediatr Nephrol. 2007 Jun;22(6):825-8. Epub 2007 Jan 11. (http://www.ncbi.nlm.nih.gov/pubmed/17216496?dopt=Abstract)
- Li X, Chai Y, Tao Z, Li L, Huang Z, Li Y, Wu H, Yang T. Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis. Int J Pediatr Otorhinolaryngol. 2012 Jan;76(1):152-4. doi: 10.1016/j.ijporl.2011.10.017. Epub 2011 Nov 16. (http://www.ncbi.nlm.nih.gov/pubmed/22093743?dopt=Abstract)
- Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, Wüthrich RP, Wagner CA. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clin Genet. 2013 Mar;83(3):274-8. doi: 10.1111/j.1399-0004.2012.01891.x. Epub 2012 May 11. (http://www.ncbi.nlm.nih.gov/pubmed/22509993?dopt=Abstract)
- Nikali K, Vanegas JJ, Burley MW, Martinez J, Lopez LM, Bedoya G, Wrong OM, Povey S, Unwin RJ, Ruiz-Linares A. Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. Am J Med Genet A. 2008 Oct 15;146A(20):2709-12. doi: 10.1002/ajmg.a.32495. (http://www.ncbi.nlm.nih.gov/pubmed/18798332?dopt=Abstract)
- Sethi SK, Singh N, Gil H, Bagga A. Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness. Indian Pediatr. 2009 May;46(5):425-7. (http://www.ncbi.nlm.nih.gov/pubmed/19478356?dopt=Abstract)
- Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet. 2002 Nov;39(11):796-803. (http://www.ncbi.nlm.nih.gov/pubmed/12414817?dopt=Abstract)
- Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol. 2006 May;17(5):1437-43. Epub 2006 Apr 12. (http://www.ncbi.nlm.nih.gov/pubmed/16611712?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.