酪氨酸血症Ⅰ型的诊治进展

Progress of diagnosis and therapy in tyrosinemia type Ⅰ

酪氨酸血症Ⅰ型是一种常染色体隐性遗传病，主要累及肝脏和。肾脏，严重者可危及生命，患者并发肝细胞癌风险大。诊断需依据临床表现，血酪氨酸及琥珀酰丙酮水平升高，或尿琥珀酰丙酮升高。尼替西农是治疗该病的主要药物，同时需给予低酪氨酸及苯丙氨酸的饮食治疗。部分患者进行了肝移植，并取得较好的效果。基因治疗已开始在动物模型中进行研究。

Tyrosinemia type I is an autosomal recessive disease characterized by severe liver and kidney damage. Patients with this disease may develop acute liver failure and have a high risk of hepatocelhilar carcinoma. The diagnosis is confirmed by elevated tyrosine serum levels and large amounts of succinylacetone in blood and urine. Nitisinone has been significantly effective in treatment of the disease, while dietary therapy with restriction of phenylalanine and tyrosine is necessary at the same time. Liver transplantation has been performed in a few patients and has a positive effect. Experimental work in model mice has provided some promise for gene therapy to this disorder.