title: Distal renal tubular acidosis and ovalocytosis: a case report.
abstract: A 23-year-old man presented with osteoporosis, revealed by femoral fractures, and a history of nephrolithiasis, short stature, metabolic acidosis, hypokalemia and ovalocytosis, a red blood cell abnormality common in malaria endemic regions. Biological investigations led to the diagnosis of type 1 distal renal tubular acidosis (dRTA). Ovalocytosis and dRTA may co-exist in the same patient, since both can originate in mutations of the anion-exchanger 1 (AE1) gene, which codes for band 3, the bicarbonate/chloride exchanger, present in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell.
authors: Department of Rheumatology, University Hospital of Rangueil, Toulouse, France.
authors: B
authors: B
authors: Jamard
authors: J
authors: J
authors: Allard
authors: P
authors: P
authors: Caron
authors: J X
authors: JX
authors: Corberand
authors: A
authors: A
authors: Blanchard
authors: R
authors: R
authors: Vargas-Poussou
authors: S
authors: S
authors: El Mahou
authors: A
authors: A
authors: Constantin
authors: A
authors: A
authors: Cantagrel
authors: B
authors: B
authors: Mazières
authors: M
authors: M
authors: Laroche
mesh_terms: D015502:Absorptiometry, Photon; D000141:Acidosis, Renal Tubular / Q000150:complications / Q000175:diagnosis; D000328:Adult; D001457:Anion Exchange Protein 1, Erythrocyte; D015519:Bone Density; D004612:Elliptocytosis, Hereditary / Q000150:complications*; D006801:Humans; D008297:Male; D009154:Mutation; D010024:Osteoporosis / Q000150:complications* / Q000000981:diagnostic imaging
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte
references: Am J Physiol. 1982 May;242(5):F544-51
references: 7081440
references: Kidney Int. 1997 Jan;51(1):216-21
references: 8995736
references: Lancet. 1972 Nov 11;2(7785):994-7
references: 4116983
references: N Engl J Med. 1982 Jul 22;307(4):217-21
references: 7088070
references: Kidney Int. 2002 Jul;62(1):10-9
references: 12081559
references: Biochem Cell Biol. 2006 Dec;84(6):949-59
references: 17215882
references: Am J Physiol. 1993 Oct;265(4 Pt 1):E547-53
references: 8238328
references: Kidney Int. 2000 Jun;57(6):2258-67
references: 10844596
references: Blood. 2000 Aug 15;96(4):1602-4
references: 10942416
references: Nephron. 1975;15(2):111-23
references: 239357
references: Nephrol Dial Transplant. 2000 Jul;15(7):975-80
references: 10862634
references: Biochem J. 2005 Dec 15;392(Pt 3):425-34
references: 16107207
references: Medicine (Baltimore). 1988 Mar;67(2):84-99
references: 3127650
references: Kidney Int. 1999 Nov;56(5):1674-82
references: 10571775
references: Biochem Biophys Res Commun. 2006 Nov 24;350(3):723-30
references: 17027918