Affiliations 

  • 1 University College Medical School, Royal Free Campus and Hospital, London NW3 2PF, UK
QJM, 2012 Sep;105(9):861-77.
PMID: 22919024 DOI: 10.1093/qjmed/hcs139

Abstract

Distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene encoding the erythroid and kidney isoforms of anion exchanger 1 (AE1 or band 3) has a high prevalence in some tropical countries, particularly Thailand, Malaysia, the Philippines and Papua New Guinea (PNG). Here the disease is almost invariably recessive and can result from either homozygous or compound heterozygous SLC4A1 mutations.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.