Primary Distal Renal Tubular Acidosis


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.

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

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