Özet:

Primary hyperoxaluria is a rare congenital metabolic disease characterised by an overproduction of oxalate, secondary to a hepatic enzyme deficiency, alanine glyoxylate aminotransferase (AGT). Calcium oxalate crystals are deposited in many tissues. Involvement of the bone marrow is relatively rare. We report the case of a young 29-year-old patient with a history of recurrent renal lithiasis, progressing to end-stage chronic renal failure at the haemodialysis stage, admitted to the medical ward for investigation of mucocutaneous pallor and anaemia resistant to erythropoietin. Clinical and laboratory examination revealed an oedematous-ascitic syndrome and pancytopenia with normocytic normochromic anaemia. Imaging revealed moderate ascites and homogeneous splenomegaly. The myelogram was inconclusive. An osteomedullary biopsy was performed and showed deposits of oxalate crystals with bone marrow fibrosis associated with foreign body macrophagic granulomas. These crystals were grouped in a rosette and birefringent in polarised light. Primary hyperoxaluria is a rare disease. Involvement of the bone marrow indicates the advanced stage of the disease, hence the importance of anatomopathological diagnosis. Hepato-renal transplantation remains the only effective treatment for this disease.

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