A case of distal renal tubular acidosis, Southeast Asian ovalocytosis and possible fluorosis

JP Vithanage, M Ekanayake

Abstract

A 39-year old man had periodic paralysis due to hypokalaemia. Investigations led to the diagnosis of distal renal tubular acidosis (dRTA) and Southeast Asian ovalocytosis (SAO). Both can originate in mutations of the anion-exchanger 1 gene (AE1), which codes for band 3, the bicarbonate/chloride exchanger in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell. The finding of diffuse osteosclerosis led to the suspicion of coexisting fluorosis.  

doi: 10.4038/cmj.v54i1.469

Ceylon Medical Journal Vol.54(1) 2009 p.19-20

Keywords

distal renal tubular acidosis
Full Text: PDF

Indexed in BIOSIS, Elsevier SCOPUS, EMBASE, CABI and Index Medicus/Medline.