Late presentation and development of nephrocalcinosis in primary hyperoxaluria.
A case of primary hyperoxaluria type 1 with complete deficiency of alanine:glyoxalate aminotransferase that first manifested at the age of 59 with irreversible acute on chronic renal failure is reported. Nephrocalcinosis, initially absent, developed rapidly after renal failure evolved. The possible role of hypovolaemia and contrast nephrotoxicity in precipitating the clinical onset is discussed. Primary hyperoxaluria should be considered in patients of any age presenting with unexplained renal failure, and appropriate systemic pathology of oxalosis.
Irish
A B
AB
St Vincent's Hospital, Darlinghurst, NSW, Australia.
Doust
B
B
D000409:Alanine / Q000172:deficiency; D005260:Female; D006801:Humans; D006959:Hyperoxaluria / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000503:physiopathology; D008875:Middle Aged; D009397:Nephrocalcinosis / Q000150:complications / Q000209:etiology; D011877:Radionuclide Imaging
D000409:Alanine