Familial distal renal tubular acidosis
- PMID: 33726529
- PMCID: PMC7975576
- DOI: 10.1177/03000605211000533
Familial distal renal tubular acidosis
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.
Keywords: China; Distal renal tubular acidosis; autosomal dominant and recessive transmission; case report; children; rare disease.
Conflict of interest statement
References
-
- Morris RC, Jr, Ives HE. Inherited disorders of the renal tubule. In: Brenner BM. (ed.) The Kidney, 5th Ed. WB Saunders, Philadelphia: 1996, pp.1764–1827.
-
- Buckalew VM, Purvis ML, Schulman MG, et al. Hereditary renal tubular acidosis. Medicine (Baltimore) 1974; 53: 229–254. - PubMed
-
- Ribeiro ML, Alloisio N, Almeida H, et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood 2000; 96: 1602–1604. - PubMed
-
- Gomez J, Gil-Pena H, Santos F, et al. Primary distal renal tubular acidosis: novel findings in patients studied by next generation sequencing. Pediatr Res 2016; 79: 496–501. - PubMed
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
