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Familial Distal Renal Tubular Acidosis

Overview
Journal J Int Med Res
Publisher Sage Publications
Specialty General Medicine
Date 2021 Mar 17
PMID 33726529
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Abstract

We report the case of a family in which two sisters have distal renal tubular acidosis (dRTA). Familial dRTA is a rare disorder, with both autosomal dominant and recessive transmission. This is a report of familial dRTA from China.

References
1.
Garcia-Gonzalez M, Menezes L, Piontek K, Kaimori J, Huso D, Watnick T . Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet. 2007; 16(16):1940-50. PMC: 2085232. DOI: 10.1093/hmg/ddm141. View

2.
Forgac M . Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology. Nat Rev Mol Cell Biol. 2007; 8(11):917-29. DOI: 10.1038/nrm2272. View

3.
Karet F, Finberg K, Nelson R, Nayir A, Mocan H, Sanjad S . Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet. 1999; 21(1):84-90. DOI: 10.1038/5022. View

4.
Karet F . Mechanisms in hyperkalemic renal tubular acidosis. J Am Soc Nephrol. 2009; 20(2):251-4. DOI: 10.1681/ASN.2008020166. View

5.
Gomez J, Gil-Pena H, Santos F, Coto E, Arango A, Hernandez O . Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing. Pediatr Res. 2015; 79(3):496-501. DOI: 10.1038/pr.2015.243. View