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- Title
Distal renal tubular acidosis and ovalocytosis: a case report.
- Authors
Jamard, B.; Allard, J.; Caron, P.; Corberand, J. X.; Blanchard, A.; Vargas-Poussou, R.; Mahou, S. El.; Constantin, A.; Cantagrel, A.; Mazières, B.; Laroche, M.
- 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.
- Subjects
ACIDOSIS; OSTEOPOROSIS; ACID-base imbalances; BICARBONATE ions; HYPOKALEMIA; OLDER men; CASE studies
- Publication
Osteoporosis International, 2008, Vol 19, Issue 1, p119
- ISSN
0937-941X
- Publication type
Article
- DOI
10.1007/s00198-007-0419-8