Department for Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Heinrich Heine-University, Düsseldorf, Germany.
J Perinatol. 2013 Jan;33(1):83-5. doi: 10.1038/jp.2012.9.
Neonatal hemochromatosis (NH) is a rare and severe liver disease of mainly intra-uterine onset, characterized by neonatal liver failure, hepatic and extrahepatic iron accumulation. This leads to an altered iron metabolism with resulting siderosis. The disease represents the most common cause of liver failure in neonates and is also the most common indication for neonatal liver transplantation. We present a case of a newborn diagnosed with NH and life threatening liver failure. Initial treatment consisted of chelation therapy and antioxidants, but lack of laboratory and clinical improvement led to an exchange transfusion followed by the singular substitution of intravenous immunoglobulin (IVIG). Both, exchange transfusion and IVIG were tolerated well and led to an improvement of the general condition of the patient and recovery of liver synthetic function. The subsequent favorable course of the disease is described in this case report.
新生儿血色病(NH)是一种罕见且严重的肝脏疾病,主要为宫内发病,其特征为新生儿肝功能衰竭、肝内和肝外铁蓄积。这导致铁代谢异常,从而引发血色素沉着症。该疾病是新生儿肝功能衰竭的最常见原因,也是新生儿肝移植最常见的适应证。我们报告了一例诊断为 NH 并伴有危及生命的肝功能衰竭的新生儿病例。初始治疗包括螯合疗法和抗氧化剂,但由于实验室和临床改善不明显,随后进行了换血治疗,接着进行了静脉注射免疫球蛋白(IVIG)的单一替代治疗。换血治疗和 IVIG 均耐受良好,患者的一般状况和肝脏合成功能得到改善。本病例报告描述了随后疾病的良好病程。