Cakir Murat, Mutlu Mehmet, Aydin-Mungan Sevdegül, Cansu Ayşegül, Aslan Yakup, Erduran Erol
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
Turk J Pediatr. 2011 Jul-Aug;53(4):455-9.
Acute liver failure (ALF) is a relatively rare condition in neonates, and early diagnosis and treatment are crucial for the treatable conditions. Neonatal hemochromatosis (NH) is a rare clinical condition that is clinically defined as severe neonatal liver disease associated with hepatic and extrahepatic iron deposition in a distribution similar to that seen in hereditary hemochromatosis. Although a few cases have been reported with spontaneous remission, early and aggressive medical treatment is essential for improving the outcome. Despite aggressive treatment, some patients may require liver transplantation. We report a five-day-old male infant with NH and associated Duarte variant galactosemia, renal tubulopathy and hypertyrosinemia, who was successfully treated with combination medical treatment. Combination therapy may reduce the need for liver transplantation in infants with NH. Early diagnosis and aggressive treatment are important as in galactosemia or tyrosinemia for the outcome. Thus, NH may be listed as a treatable cause of ALF in neonates.
急性肝衰竭（ALF）在新生儿中是一种相对罕见的病症，对于可治疗的情况，早期诊断和治疗至关重要。新生儿血色素沉着症（NH）是一种罕见的临床病症，临床上定义为与遗传性血色素沉着症中所见分布相似的肝内和肝外铁沉积相关的严重新生儿肝病。尽管有少数病例报告有自发缓解情况，但早期积极的药物治疗对于改善预后至关重要。尽管进行了积极治疗，一些患者可能仍需要肝移植。我们报告了一名患有NH并伴有杜阿尔特变异型半乳糖血症、肾小管病和高酪氨酸血症的5日龄男婴，其通过联合药物治疗获得成功治愈。联合治疗可能会减少NH患儿肝移植的需求。与半乳糖血症或酪氨酸血症一样，早期诊断和积极治疗对预后很重要。因此，NH可列为新生儿ALF的可治疗病因。
