A case of distal renal tubular acidosis, Southeast Asian ovalocytosis and possible fluorosis.
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.
Vithanage
J P
JP
General Medical Unit, Ward 45, National Hospital of Sri Lanka, Colombo. cjvithanage@yahoo.com
Ekanayake
M
M
D000141:Acidosis, Renal Tubular / Q000139:chemically induced* / Q000175:diagnosis / Q000188:drug therapy; D000284:Administration, Oral; D000328:Adult; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D002136:Calcium, Dietary / Q000627:therapeutic use; D004612:Elliptocytosis, Hereditary / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D005458:Fluoride Poisoning / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D009050:Fluorosis, Dental / Q000150:complications / Q000188:drug therapy; D006801:Humans; D008297:Male; D010026:Osteosclerosis / Q000150:complications / Q000175:diagnosis*; D011189:Potassium Chloride / Q000627:therapeutic use; D011782:Quadriplegia / Q000209:etiology* / Q000473:pathology; D017693:Sodium Bicarbonate / Q000627:therapeutic use
D050071:Bone Density Conservation Agents; D002136:Calcium, Dietary; D011189:Potassium Chloride; D017693:Sodium Bicarbonate