Bodaghkhan Farahnaz, Geramizadeh Bita, Rajeh Abbas Abdollah, Haghighat Mahmoud, Dehghani Mohsen, Honar Naser, Zahmatkeshan Mojgan, Imanieh Mohammad-Hadi
Department of Pathology, Shiraz University of Medical Sciences, Shiraz, IR Iran.
Department of Pathology, Shiraz University of Medical Sciences, Shiraz, IR Iran; Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, IR Iran.
Iran J Pediatr. 2016 Feb 27;26(5):e4624. doi: 10.5812/ijp.4624. eCollection 2016 Oct.
Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment starting in the neonatal period, the patient can have normal life with very few restrictions in diets containing tyrosine and phenylalanine.
In this study we wanted to evaluate an easy to perform, rapid and sensitive qualitative test with low cost, as a part of neonatal screening tests to help early diagnosis and treatment of hereditary tyrosinemia.
In this cross sectional study, during the study period (2013 - 2014), 100 patients were selected. Fifty three (53) of these patients had proven tyrosinemia and the other 47 cases biliary atresia, paucity of intrahepatic bile ducts, cytomegalovirus (CMV) hepatitis, galactosemia and storage diseases.
There were 2 false negative and 14 false positive cases of hereditary tyrosinemia (HT-1) in the test. Six cases of biliary atresia, 7 cases of paucity of intrahepatic bile ducts and one patient with cytomegalovirus (CMV) hepatitis were falsely positive with the test. Sensitivity of the test was 96.23%, specificity 71.43%, positive predictive value (PPV) 78.46%, and negative predictive value (NPV) 94.59%.
This rapid qualitative test on dried blood sample is an easy, cheap, and feasible method for the screening of hereditary tyrosinemia in neonatal period.
酪氨酸血症是一种遗传性代谢紊乱疾病，其特征是血浆中酪氨酸及其代谢产物水平升高。若不进行治疗，该疾病将进展为肝肾功能衰竭，因此若不进行肝移植，患者会在10岁前死亡。所以，早期诊断和治疗至关重要，关乎生命。这意味着若在新生儿期就开始早期治疗，患者在摄入含酪氨酸和苯丙氨酸的饮食时，只需极少限制就能正常生活。
在本研究中，我们希望评估一种易于操作、快速且灵敏的低成本定性检测方法，作为新生儿筛查测试的一部分，以帮助早期诊断和治疗遗传性酪氨酸血症。
在这项横断面研究中，于研究期间（2013 - 2014年）选取了100例患者。其中53例患者已确诊为酪氨酸血症，另外47例为胆道闭锁、肝内胆管稀少、巨细胞病毒（CMV）肝炎、半乳糖血症和贮积病。
该检测中遗传性酪氨酸血症（HT - 1）有2例假阴性和14例假阳性病例。6例胆道闭锁、7例肝内胆管稀少和1例巨细胞病毒（CMV）肝炎患者被检测为假阳性。该检测的灵敏度为96.23%，特异性为71.43%，阳性预测值（PPV）为78.46%，阴性预测值（NPV）为94.59%。
这种对干血样本进行的快速定性检测是新生儿期遗传性酪氨酸血症筛查的一种简便、廉价且可行的方法。
