Bradbury M G, Henderson M, Brocklebank J T, Simmonds H A
Academic Unit of Paediatrics and Child Health, St James's University Hospital, Leeds, UK.
Pediatr Nephrol. 1995 Aug;9(4):476-7. doi: 10.1007/BF00866732.
A 9-month-old child with the skeletal abnormalities of Fuhrmann's syndrome presented with acute renal failure secondary to bilateral renal calculi. Hereditary xanthinuria was shown to be the underlying metabolic defect. Treatment with allopurinol was unsuccessful at reducing the xanthine excretion.
一名患有富尔曼综合征骨骼异常的9个月大儿童因双侧肾结石继发急性肾衰竭。遗传性黄嘌呤尿症被证明是潜在的代谢缺陷。使用别嘌醇治疗未能成功减少黄嘌呤排泄。