Primary hyperoxaluria type 1 (PH type 1) is a hereditary disorder with excessive production of oxalate caused by deficient liver specific enzyme alanine-glyoxylate aminotransferase (AGT). Increased oxalate production leads to calcium oxalate deposition in different organs and tissues, such as kidney, heart, nervous system, skin, bone and bone marrow. Early diagnosis is essential to prevent complications. Family history, urine oxalate assesment, oxalaemia, determination of oxalate deposits in tissues and genetic analysis are beneficial for diagnosis. Treatment should be started at early stages of the disease in order to decrease urinary saturation of calcium oxalate. High fluid intake, urinary crystallisation inhibitors and pyridoxine may be used. In chronic kidney failure patients renal replacement therapies are necessary, early transplantation is mandatory. We present a 30 year old man with PH type 1 who admitted with severe pericardial effusion, despite the fact that he was maintained both peritoneal dialysis and frequent hemodialysis.
Primary hyperoxaluria type 1, chronic kidney failure, severe pericardial effusion
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