论文部分内容阅读
目的:对一例酪氨酸血症患儿进行临床表现和基因突变的分析。方法:采用血氨基酸液相色谱-串联质谱法和尿液有机酸气相色谱-质谱分析患儿血尿代谢情况,采用PCR和一代测序技术分别对患儿的FAH基因和HPD基因的外显子及其旁翼区进行序列分析。结果:检测出先证者血液中酪氨酸水平为404.6μM、甲硫氨酸(Met)水平为126.4μM、苯丙氨酸(Phe)水平为514.8μM,三者浓度均明显高于正常水平;尿液中检测出4-羟基苯乙酸(+)、4-羟基苯乳酸(+)和4-羟基苯丙酮酸(++);基因序列分析FAH基因未见异常,HPD基因上发现突变位点c.G97A(p.A33T)。结论:根据患儿的临床表现及血尿代谢检测结果,提示患儿为酪氨酸血症患者,进一步的基因检测结果提示患儿可能为罕见的Hawkinsinuria症。
Objective: To analyze the clinical manifestations and gene mutation of a patient with tyrosinemia. Methods: The hematuria and urine metabolites in children were analyzed by using blood amino acid liquid chromatography-tandem mass spectrometry and urine organic acid gas chromatography-mass spectrometry. PCR and first-generation sequencing were used to detect the exon of FAH gene and HPD gene in children Wing area for sequence analysis. Results: The level of tyrosine was found to be 404.6μM, methionine (Met) was 126.4μM and phenylalanine (Phe) was 514.8μM in the blood of all probands, the concentrations of all three were significantly higher than the normal levels. (+), 4-hydroxybenzenelactic acid (+) and 4-hydroxyphenylpyruvate (++) were detected in urine. There was no abnormality in the gene sequence analysis of the FAH gene, and mutations in the HPD gene c.G97A (p.A33T). Conclusion: According to the clinical manifestations of children and hematuria metabolic test results, suggesting that patients with tyrosinemia patients, further genetic test results suggest that children may be rare Hawkinsinuria disease.