Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Denver, Colorado, USA.
Curr Opin Pediatr. 2010 Apr;22(2):241-5. doi: 10.1097/MOP.0b013e328336ebe1.
Liver failure in newborns can present formidable diagnostic challenges. The presentation of neonatal liver failure is variable and the initial assessment is crucial in the determination of potentially treatable causes. We present a case of neonatal hemochromatosis, review genetic and metabolic causes of neonatal liver failure, and outline an updated differential diagnosis of neonatal liver failure. In addition, we propose a comprehensive initial work-up of neonatal liver failure, and review current treatments for neonatal hemochromatosis.
新生儿肝功能衰竭可能带来严峻的诊断挑战。新生儿肝功能衰竭的临床表现多种多样，初始评估对于确定潜在可治疗病因至关重要。我们报告了 1 例新生儿血色病病例，回顾了新生儿肝功能衰竭的遗传和代谢病因，并概述了新生儿肝功能衰竭的最新鉴别诊断。此外，我们提出了新生儿肝功能衰竭的综合初始检查方案，并复习了新生儿血色病的现有治疗方法。
