Dubois J, Garel L, Patriquin H, Paradis K, Forget S, Filiatrault D, Grignon A, Russo P, St-Vil D
Department of Radiology, Hôpital Sainte-Justine, 3175 Côte-Ste-Catherine, Montreal, Quebec H3T 1C5, Canada.
Pediatr Radiol. 1996 Dec;26(12):845-51. doi: 10.1007/BF03178035.
Hereditary tyrosinemia type 1, a common genetic disorder in the province of Quebec, is characterized by a deficiency of fumarylacetoacetate hydrolase. In this autosomal recessive disorder of tyrosine metabolism, the accumulation of succinylacetone leads to neurologic crises, acute and chronic liver failure, complex renal tubulopathy, rickets and a hemorrhagic syndrome. Liver trans- plantation has dramatically modified the spontaneous course of this lethal disease. The present paper describes the imaging features of tyrosinemia in 30 patients followed from 1980 to 1995 at Hôpital Sainte-Justine, Montreal, Canada.
1型遗传性酪氨酸血症是魁北克省一种常见的遗传性疾病，其特征是延胡索酰乙酰乙酸水解酶缺乏。在这种酪氨酸代谢的常染色体隐性疾病中，琥珀酰丙酮的积累会导致神经危机、急慢性肝功能衰竭、复杂性肾小管病、佝偻病和出血综合征。肝移植极大地改变了这种致命疾病的自然病程。本文描述了1980年至1995年在加拿大蒙特利尔圣贾斯汀医院随访的30例酪氨酸血症患者的影像学特征。
