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01.01.2008 | Case Report

Distal renal tubular acidosis and ovalocytosis: a case report

verfasst von: B. Jamard, J. Allard, P. Caron, J. X. Corberand, A. Blanchard, R. Vargas-Poussou, S. El Mahou, A. Constantin, A. Cantagrel, B. Mazières, M. Laroche

Erschienen in: Osteoporosis International | Ausgabe 1/2008

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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.

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Titel: Distal renal tubular acidosis and ovalocytosis: a case report
verfasst von: B. Jamard
J. Allard
P. Caron
J. X. Corberand
A. Blanchard
R. Vargas-Poussou
S. El Mahou
A. Constantin
A. Cantagrel
B. Mazières
M. Laroche
Publikationsdatum: 01.01.2008
Verlag: Springer-Verlag
Erschienen in: Osteoporosis International / Ausgabe 1/2008
Print ISSN: 0937-941X
Elektronische ISSN: 1433-2965
DOI: https://doi.org/10.1007/s00198-007-0419-8

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