Distal renal tubular acidosis and ovalocytosis: a case report.
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.
Jamard
B
B
Department of Rheumatology, University Hospital of Rangueil, Toulouse, France.
Allard
J
J
Caron
P
P
Corberand
J X
JX
Blanchard
A
A
Vargas-Poussou
R
R
El Mahou
S
S
Constantin
A
A
Cantagrel
A
A
Mazières
B
B
Laroche
M
M
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
D001457:Anion Exchange Protein 1, Erythrocyte
Am J Physiol. 1982 May;242(5):F544-51
7081440
Kidney Int. 1997 Jan;51(1):216-21
8995736
Lancet. 1972 Nov 11;2(7785):994-7
4116983
N Engl J Med. 1982 Jul 22;307(4):217-21
7088070
Kidney Int. 2002 Jul;62(1):10-9
12081559
Biochem Cell Biol. 2006 Dec;84(6):949-59
17215882
Am J Physiol. 1993 Oct;265(4 Pt 1):E547-53
8238328
Kidney Int. 2000 Jun;57(6):2258-67
10844596
Blood. 2000 Aug 15;96(4):1602-4
10942416
Nephron. 1975;15(2):111-23
239357
Nephrol Dial Transplant. 2000 Jul;15(7):975-80
10862634
Biochem J. 2005 Dec 15;392(Pt 3):425-34
16107207
Medicine (Baltimore). 1988 Mar;67(2):84-99
3127650
Kidney Int. 1999 Nov;56(5):1674-82
10571775
Biochem Biophys Res Commun. 2006 Nov 24;350(3):723-30
17027918