Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
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DOI：
10.1038/gim.2017.101
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发表时间：
2017-12-01
期刊：
影响因子：
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通讯作者：
Scott, C Ronald
中科院分区：
文献类型：
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作者：
Chinsky, Jeffrey M;Singh, Rani;Scott, C Ronald
I型酪氨酸血症（肝肾酪氨酸血症，HT-1）是一种常染色体隐性遗传病，可导致肝功能衰竭，伴有肾脏和神经系统的合并症，并有肝细胞癌的长期风险。2-[2-硝基-4-三氟甲基苯甲酰]-1,3-环己二酮（NTBC）是一种有效的医学治疗方法，但需要早期识别受影响的儿童，以获得最佳的长期效果。新生儿筛查（NBS）利用血琥珀酰丙酮作为NBS标记优于观察酪氨酸水平作为识别HT-1新生儿的方法。如果及早发现并适当治疗，大多数受影响的婴儿可以保持无症状。对于经NBS或临床症状确诊的HT-1患儿，需要制定临床管理方案。为此，来自美国和加拿大的11名临床从业人员，包括8名生化遗传学医生、2名代谢营养学家和1名临床心理学家，他们具有为HT-1患者提供护理的经验，发起了一个基于证据和共识的过程，以建立识别和治疗HT-1的统一建议。建议是从文献回顾、从业人员管理调查和涉及两次面对面会议的名义小组过程中制定的。对HT-1的NBS有强烈的共识，使用血琥珀酰丙酮作为标记物，然后进行诊断确认和NTBC和饮食的早期治疗。提供了通过新生儿筛查和临床症状表现对阳性诊断进行即时和长期临床随访的一致建议。
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) exists but requires early identification of affected children for optimal long-term results. Newborn screening (NBS) utilizing blood succinylacetone as the NBS marker is superior to observing tyrosine levels as a way of identifying neonates with HT-1. If identified early and treated appropriately, the majority of affected infants can remain asymptomatic. A clinical management scheme is needed for infants with HT-1 identified by NBS or clinical symptoms. To this end, a group of 11 clinical practitioners, including eight biochemical genetics physicians, two metabolic dietitian nutritionists, and a clinical psychologist, from the United States and Canada, with experience in providing care for patients with HT-1, initiated an evidence- and consensus-based process to establish uniform recommendations for identification and treatment of HT-1. Recommendations were developed from a literature review, practitioner management survey, and nominal group process involving two face-to-face meetings. There was strong consensus in favor of NBS for HT-1, using blood succinylacetone as a marker, followed by diagnostic confirmation and early treatment with NTBC and diet. Consensus recommendations for both immediate and long-term clinical follow-up of positive diagnoses via both newborn screening and clinical symptomatic presentation are provided.