尼替西农治疗2例酪氨酸血症Ⅰ型的效果分析并文献复习

The analysis of therapeutic effect of nitisinone in two patients with tyrosinemia type Ⅰ and review of literature

目的探讨尼替西农治疗酪氨酸血症I型的疗效。方法对临床疑似酪氨酸血症的患儿进行血串联质谱氨基酸及琥珀酰丙酮检测和尿气相质谱琥珀酰丙酮及有机酸检测。对确诊的2例酪氨酸血症I型患儿给予尼替西农及不含酪氨酸及苯丙氨酸的配方粉治疗,疗程6个月。结果 2例患儿经治疗6个月后血琥珀酰丙酮水平降至正常,血酪氨酸水平下降,分别由201.1和347.2μmol/L降至132.3和308.4μmol/L,肝脏缩小,肝功能好转,尿4-羟基苯乙酸、4-羟基苯乳酸及4-羟基苯丙酮酸均显著下降。结论尼替西农可显著降低酪氨酸血症I型患儿的血琥珀酰丙酮水平,减轻血琥珀酰丙酮对机体的损伤,对酪氨酸血症-I型有较好的疗效。

Objective To explore and analyze the effect of nitisinone in patients with tyrosinemia typeⅠ.Methods The patients suspected with tyrosinemia were tested by tandem mass spectrometry for determination of the level of amino acids and succinylacetone in the blood,and detected by gas chromatography-mass spectrometry for determination of the level of succinylacetone and organic acid in the urine.Two confirmed cases were treated with nitisinone and fed with formula free of tyrosine and phenylalanine for six months.Results After six months,the succinylacetone levels in two patients treated with nitisinone decreased to normal.The levels of tyrosine decreased from 201.1 μmol/L and 347.2 μmol/L to 132.3 μmol/L and 308.4 μmol/L,respectively.Their hepatic function was improved,with the hepatomegaly relieved.In addition,the concentrations of 4-hydroxyphenyl acetic acid,4-hydroxyphenyl lactic acid and 4-hydroxyphenyl pyruvate in the urine decreased significantly.Conclusions Nitisinone can decrease the succinylacetone level in blood of patients with tyrosinemia typeⅠremarkably and reduce the damage to the body of succinylacetone.Nitisinone shows a good effect to the patients with tyrosinemia typeⅠ.