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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Jamard, B., Allard, J., Caron, P. et al. Distal renal tubular acidosis and ovalocytosis: a case report. Osteoporos Int 19, 119–122 (2008). https://doi.org/10.1007/s00198-007-0419-8
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DOI: https://doi.org/10.1007/s00198-007-0419-8