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首页> 外文期刊>Frontiers in Pediatrics >Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review
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Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

机译：黎巴嫩遗传性酪氨酸症1型的诊断和治疗挑战：12年的回顾性审查

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Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities. Nowadays, early diagnosis and therapy with nitisinone can reverse the clinical picture. In developing countries, diagnostic and therapeutic challenges may affect the outcome of this disease. The choice of the treatment modality may depend on the economic status of each country. Few reports on the long-term outcome of hereditary tyrosinemia type 1 are available from developing and Arab countries. Methods: A retrospective study of charts of Lebanese patients diagnosed with tyrosinemia type 1 and followed, at the American University of Beirut, during a 12-year period was performed. Clinical presentation and liver biochemical profile at diagnosis were analyzed, along with therapeutic modalities and long-term outcome. Results: Twenty-two children were diagnosed and followed during the study period. Median age at diagnosis was 7 months (range: one day to 35 months). Most of the patients presented with hepatomegaly and jaundice. Four patients were referred for atypical presentations with developmental delay and seizures, secondary to undiagnosed hypoglycemia episodes. Around half of the patients presented with failure to thrive. Transaminitis, cholestasis and increased α-fetoprotein level were variably present at diagnosis (36% to 50%). All patients had elevated plasma tyrosine and urinary succinylacetone levels. Genetic testing was performed in 9%. Only one third could be treated with nitisinone. Liver transplant was electively performed in 9% of cases, to overcome the long-term cost of nitisinone. One third of the patients died between the age of 1 month and 11 years. Surviving patients are still candidates for liver transplant. Conclusion: Our experience reflects the challenges of diagnosis and treatment of hereditary tyrosinemia type 1 in a developing country. In the absence of specific neonatal screening, early diagnosis relies mostly on the clinical awareness of the physician. Long-term nitisinone use may be deterred by its high cost and liver transplantation carries risks of surgical complications. New, effective, and less expensive treatments are needed, especially for developing countries.
机译：背景：遗传性酪氨酸血症1是一种罕见的遗传症，导致肝硬化和肝细胞癌。几十年前，饮食措施和最终肝脏移植构成了唯一的治疗方式。如今，用核酮的早期诊断和治疗可以逆转临床图。在发展中国家，诊断和治疗挑战可能会影响这种疾病的结果。治疗方式的选择可能取决于每个国家的经济状况。关于遗传性酪氨酸类型1的长期结果的报告可以从发展中国家和阿拉伯国家获得。方法：在贝鲁特1型患有酪氨酸血症1型患有酪氨酸症患者的黎巴嫩患者的图表的回顾性研究，在美国贝鲁特大学，在为期12年期间进行。分析了诊断中的临床介绍和肝脏生化型材，以及治疗方式和长期结果。结果：在研究期间诊断并遵循22名儿童。诊断的中位年龄为7个月（范围：一天至35个月）。大多数患者患有肝肿大和黄疸。有4名患者参考非典型介绍，具有发育延迟和癫痫发作，中学到未确诊的低血糖发作。大约一半的患者由于未能茁壮成长而呈现。曲敏性，胆汁淤积和α-胎蛋白水平可变地存在于诊断（36％至50％）。所有患者均有升高的血浆酪氨酸和尿甲基丙酮水平。遗传检测以9％进行。只有三分之一可以用核酮治疗。肝脏移植在9％的病例中进行了典先进行，以克服核酮的长期成本。患者中的三分之一在1个月和11年之间死亡。存活的患者仍然是肝脏移植的候选者。结论：我们的经验反映了一个发展中国家遗传性酪氨酸血症1型遗传酪蛋白血症的挑战。在没有特异性新生儿筛查的情况下，早期诊断主要依赖于医生的临床意识。由于其高成本和肝移植携带手术并发症的风险，可以阻止长期核酮。需要新的，有效和更便宜的处理，特别是对于发展中国家。

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