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Revista Medica Herediana

versión impresa ISSN 1018-130Xversión On-line ISSN 1729-214X

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BRAVO ZUNIGA, Jessica et al. Primary hyperoxaluria and pancitopenia: a case report. Rev Med Hered [online]. 2005, vol.16, n.2, pp.148-156. ISSN 1018-130X.

A 15-year-old boy with story of recurrent kidney stones which began since 2 years old. He developed progressive renal failure and for the past 3 years he had required hemodialysis. Six months ago he developed oligoarthritis and anemia. On physical examination there was hepatosplenomegaly with lymphadenopathy. Laboratory studies showed pancytopenia, hemoglobin level of 7.3 gr/dL, white blood cell count of 2,600/mm3, and platelet count of 123,000/mm3. Values of serum GOT, GPT and bilirubin were normal. Ultrasound scan of abdomen revealed atrophic, heavily calcified kidneys and X rays showed nephrocalcinosis. Bone biopsy revealed extensive crystal deposition arranged in a radial pattern, with almost complete obliteration of hematopoietic cells with variable number of multinucleated cells and moderate fibrosis. Bone marrow aspirate did not show any calcium oxalate crystals. We review primary hyperoxaluria and underscore the importance of recognizing the disease as cause of renal failure, in a patient with clinical history of renal stones and nephrocalcinosis. (Rev Med Hered 2004;16:148-156).

Palabras clave : Hyperoxaluria; oxalosis; pancitopenia; nephrocalcinosis; renal stones.

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