Abstract

A. Abouzoubair*, L. Boualla, S. Belmokadem, Z. Alhamany, T. Bouattar, L. Benamar, R. Bayahia, A. Sefiani and N. Ouzeddoun

ABSTRACT

Primary hyperoxaluria type 1 (PH1) is a rare autosomal-recessive disease caused by mutations in the gene AGXT. That induces overproduction of oxalate due to the liver specific enzyme, alanine-glyoxylate aminotransferase, deficiencies. As glomerular filtration rate decreases, systemic oxalate storage occurs throughout all the body, and mainly in the skeleton. The diagnosis is first based on urine oxalate measurement, then on genotyping. Conservative measures including hydration, crystallization inhibitors and pyridoxine may allow long lasting renal survival and should be undertaken as early as possible. Treatment based on liver or liver and kidney transplant, which may supplement enzymatic activity and kidney function respectively. Promising therapeutic agents are currently under study. We report two cases of chronic hemodialysis patients (CHD) for whom late diagnosis of PH1 was made by a bone marrow biopsy (BMB). These cases illustrate the harmful consequences associated with the delayed diagnosis of this rare disease.