[Primary type 1 hyperoxaluria - about two particular cases]

ABSTRACT

Primary hyperoxaluria type I is an autosomal recessive disease due to congenital defect in alanine glyoxylate aminotransferase [ACT]. It is a rare disorder in witch only combined liver-kidney transplantation is curative. Our two cases of primary type I hyperoxaluria were particular by the early renal failure, thrombocytopenia and intestinal invagination. On the basis of our two cases we discuss diagnostic and therapeutic methods: