Primary Distal Renal Tubular Acidosis
What gene changes cause primary distal renal tubular acidosis?
Primary distal renal tubular acidosis (primary dRTA) is a genetic disorder caused by loss-of-function variants in one of three genes (ATP6V0A4, ATP6V1B1, and SLC4A1). These genes are involved in processes that manage the pH levels of blood and body.
Primary distal renal tubular acidosis (primary dRTA) caused by loss-of-function variants in the (ATP6V0A4 or ATP6V1B1 genes only occurs when a baby inherits two nonworking copies of the ATP6V1B1 or ATP6V0A4 gene, one from each parent. The genes are made nonworking by disease-causing changes or variants in the ATP6V1B1 or ATP6V0A4 gene. When there is no working copies of the genes, it decreases the body's ability to control the pH of the blood and the fluid in the inner ear, resulting in the medical issues of primary dRTA.
Primary distal renal tubular acidosis (primary dRTA) caused by loss-of-function variants in the SLC4A1 gene usually occurs when a baby inherits one nonworking copies of the SLC4A1 gene. Just missing one working copy of the SLC4A1 gene decreases the body's ability to control the pH of the blood, resulting in the medical issues of primary dRTA. Having said this, in Thailand, Malaysia, the Philippines and Papua New Guinea there is a common form of primary dRTA with anemia caused when a baby inherits two nonworking copies of the SLC4A1 gene, one from each parent.
A genetic counselor can help with understanding the genetic cause of primary dRTA and discuss genetic testing options, as appropriate. Interested in talking to a genetic counselor? You can find one at the National Society of Genetic Counselors' "Find a Genetic Counselor" website https://www.nsgc.org/findageneticcounselor).
- Genetics Home Reference, renal tubular acidosis with deafness, published 10/23/2018 https://ghr.nlm.nih.gov/condition/renal-tubular-acidosis-with-deafness#sourcesforpage
- Orphanet, autosomal recessive distal renal tubular acidosis, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402041
- Pediatr Res. 2016 Mar;79(3):496-501. doi: 10.1038/pr.2015.243. Epub 2015 Nov 16.
- "Find a Genetic Counselor" https://www.nsgc.org/findageneticcounselor
- Khositseth S, Bruce LJ, Walsh SB, Bawazir WM, Ogle GD, Unwin RJ, et al. Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients. QJM. 2012;105(9):861-877.