CAJ | 학술논문

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.
락안산혈증Ⅰ형시일충상염색체은성유전병,주요루급간장화신장,엄중자가위급생명,환자병발간세포암풍험대.진단수의거림상표현,혈락안산급호박선병동수평승고,혹뇨호박선병동승고.니체서농시치료해병적주요약물,동시수급여저락안산급분병안산적음식치료.부분환자진행료간이식,병취득교호적효과.기인치료이개시재동물모형중진행연구.
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 hepatocellular 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.