LATE-ONSET PRIMARY OXALOSIS TYPE-I - AN UNCOMMON PRESENTATION OF A RARE DISEASE

A 46-year-old woman developed rapidly worsening renal insufficiency. E xtensive calcification of the kidneys was found, The patient also suff ered from ischaemic neuropathy, myopathy and arthritis. In a muscle bi opsy multiple calcium oxalate crystals could be demonstrated surrounde d by inflammatory infiltrates. Levels of oxalate in serum were markedl y elevated. Diagnosis of primary hyperoxaluria type I was made by meas uring alanine/glyoxylate aminotransferase activity in a liver biopsy. The patient underwent kidney transplantation twice, but each of the tr ansplants failed after a very short time owing to hyperacute rejection and rupture of the organ, respectively, Eventually, combined liver/ki dney transplantation was successfully performed, Two years after the t ransplantation, both organs work with good function, This case of prim ary hyperoxaluria type I is remarkable for the late onset of symptoms and the extensive involvement of other organ systems in addition to th e kidneys. This case presentation confirms previous reports discouragi ng isolated kidney transplantation for patients with primary hyperoxal uria, Only combined liver/kidney transplantation can correct the metab olic defect and may give these patients superior long-term benefit. Eu r J Gastroenterol Hepatol 10:809-812 (C) 1998 Lippincott Williams & Wi lkins.