| Literature DB >> 17690931 |
B Jamard1, J Allard, P Caron, J X Corberand, A Blanchard, R Vargas-Poussou, S El Mahou, A Constantin, A Cantagrel, B Mazières, M Laroche.
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.Entities:
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Year: 2007 PMID： 17690931 DOI： 10.1007/s00198-007-0419-8
Source DB: PubMed Journal: Osteoporos Int ISSN： 0937-941X Impact factor: 4.507