Primary Distal Renal Tubular Acidosis
Overview
What is primary distal renal tubular acidosis?
Primary distal renal tubular acidosis (primary dRTA) is a rare genetic condition that results in problems with kidney function, bone formation, hearing, and managing potassium, calcium, and pH levels in the body. The symptoms of primary dRTA most often appear in babies; however there are rarer forms that start in older children and adults.
The first signs of primary dRTA are problems eating, problems gaining weight (failure to thrive), frequent urination, extreme thirst, weakness, dehydration, and extreme tiredness. These signs are directly related to having blood with a low pH levels (a medical condition called metabolic acidosis). Other early signs may be bowing of lower leg bones or hearing loss. Hearing loss in primary dRTA can occur in infancy or later in life. It usually affects both ears and gradually gets worse. Infants and children may also be diagnosed with rickets and have weak soft bones that result in bowing of the lower legs.
All of these health problems occur because the kidneys are unable to manage the body's pH levels. Specifically, the kidneys can't filter out acidic compounds into urine to move them out of the body. If the kidney is unable to send those acidic compounds out of the body, then they stay in the blood, lower its pH level, and cause metabolic acidosis. Early recognition and treatment of primary dRTA can treat this underlying problem and avoid many of the health issues seen in untreated primary dRTA.
References
- 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
- Swayamprakasam, A. P., Stover, E., Norgett, E., Blake-Palmer, K. G., Cunningham, M. J., & Karet, F. E. (2010). Importance of early audiologic assessment in distal renal tubular acidosis. International medical case reports journal, 4, 7-11. doi:10.2147/IMCRJ.S13667
More Overview Content
Are there other names for primary distal renal tubular acidosis?
How common is primary distal renal tubular acidosis?
Are there other names for primary distal renal tubular acidosis?
Primary distal renal tubular acidosis (primary dRTA) can be referred to by several different names depending on the nonworking gene causing the condition, the pattern of inheritance seen in the family, and the specific symptoms seen in people living with the condition. These names may include:
- Autosomal recessive distal renal tubular acidosis
- Renal tubular acidosis with deafness
- Type 1 renal tubular acidosis
- AR dRTA
- Primary dRTA
- AR dRTA with deafness
- AR dRTA with hearing loss
- Autosomal recessive distal renal tubular acidosis with deafness
- Renal tubular acidosis type 1b
- Renal tubular acidosis with progressive nerve deafness
- Renal tubular acidosis, autosomal recessive, with progressive nerve deafness
- Renal tubular acidosis, distal, with progressive nerve deafness
- RTA with progressive nerve deafness
- Classic primary distal renal tubular acidosis
- Familial distal primary acidosis
- Renal tubular acidosis, distal, autosomal dominant
- RTA, gradient type
- RTA, distal type, autosomal dominant;
- Autosomal dominant SLC4A1-associated distal renal tubular acidosis
- Autosomal dominant primary distal renal tubular acidosis
- Autosomal dominant distal renal tubular acidosis
- AD dRTA
References
- 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
- Orphanet, Distal renal tubular acidosis, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=18 Accessed 20NOV18
- OMIM, RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT, https://www.omim.org/entry/179800. Accessed 20NOV18
- Genetic and Rare Disease (GARD)information center, Renal tubular acidosis, distal, autosomal dominant, https://rarediseases.info.nih.gov/diseases/4668/renal-tubular-acidosis-distal-autosomal-dominant Accessed 20NOV18.
How common is primary distal renal tubular acidosis?
Primary distal renal tubular acidosis (primary dRTA) is known to be a rare genetic condition, but the exact incidence of primary dRTA is unknown. It is known that individuals of North African (primarily Tunisia), Greek Cypriot, and Middle Eastern descent have an increased frequency of primary dRTA caused by changes in the ATP6V1B1 gene. Individuals from Northeast Thailand, Thailand, Malaysia, the Philippines, and Papua New Guinea have an increased frequency of primary dRTA and anemia caused by two changes in the SLC4A1 gene.
References
- Nagara, M., Voskarides, K., Nouira, S., Ben Halim, N., Kefi, R., Aloulou, H., Romdhane, L., Ben Abdallah, R., Ben Rhouma, F., Aissa, K., Boughamoura, L., Kammoun, T., Azzouz, H., Abroug, S., Ben Turkia, H., Ayadi, A., Mrad, R., Chabchoub, I., Hachicha, M., Chemli, J., Deltas, C., ... Abdelhak, S. (2014). Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations. Genetic testing and molecular biomarkers, 18(11), 741-8.
- Elhayek D, Perez de Nanclares G, Chouchane S, et al. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes. BMC Med Genet. 2013;14:119. Published 2013 Nov 20. doi:10.1186/1471-2350-14-119
- Feldman M, Prikis M, Athanasiou Y, Elia A, Pierides A, Deltas CC. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. Clin Genet. 2006 Feb;69(2):135-44. PubMed PMID: 16433694.
- Park, E., Phaymany, V., Yi, E. S., Phangmanixay, S., Cheong, H. I., & Choi, Y. (2018). Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families. Journal of Korean medical science, 33(13), e95. doi:10.3346/jkms.2018.33.e95
