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 di...

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Bibliographic Details
Published in:Osteoporosis international 2008, Vol.19 (1), p.119-122, Article 119
Main Authors: Jamard, B., Allard, J., Caron, P., Corberand, J. X., Blanchard, A., Vargas-Poussou, R., El Mahou, S., Constantin, A., Cantagrel, A., Mazières, B., Laroche, M.
Format: Article
Language:English
Subjects:
Absorptiometry, Photon
Acidosis, Renal Tubular - complications
Acidosis, Renal Tubular - diagnosis
Adult
Anemias. Hemoglobinopathies
Anion Exchange Protein 1, Erythrocyte
Biological and medical sciences
Blood diseases
Bone Density
Case Report
Diseases of red blood cells
Diseases of the osteoarticular system
Elliptocytosis, Hereditary - complications
Endocrinology
Hematologic and hematopoietic diseases
Humans
Kidney diseases
Male
Medical diagnosis
Medical sciences
Medicine
Medicine & Public Health
Mutation
Nephrology. Urinary tract diseases
Nephropathies. Renovascular diseases. Renal failure
Orthopedics
Osteoporosis
Osteoporosis - complications
Osteoporosis - diagnostic imaging
Osteoporosis. Osteomalacia. Paget disease
Rheumatology
Tubulopathies
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Description
Summary: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.
ISSN:0937-941X
1433-2965
DOI:10.1007/s00198-007-0419-8