Jimenez-Rivera C, Gupta A, Feberova J, de Nanassy J A, Boland M P
Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada University of Ottawa, Ottawa, ON, Canada.
University of Ottawa, Ottawa, ON, Canada.
J Neonatal Perinatal Med. 2014;7(4):301-4. doi: 10.3233/NPM-14814026.
Neonatal hemochromatosis (NH) is a rare, often fatal disorder characterized by liver failure and hepatic and extrahepatic iron overload. Clinical manifestations can occur in utero or immediately after birth. Evidence suggests that most cases are due to a gestational disease with transplacental transfer of maternal IgG antibodies targeting the fetal liver resulting in immune injury. The alloimmune target is believed to be a fetal hepatocyte cell surface antigen, with subsequent complement activation resulting in severe loss of hepatocytes and fetal iron overload. This cascade of events leads to acute liver failure and neonatal death. With gestational alloimmune liver disease (GALD) being the mechanism of liver injury in most cases of NH, a new paradigm of treatment with intravenous immunoglobulin (IVIG) and exchange transfusion has been successfully used. We describe an extremely ill newborn with NH successfully treated with three doses of IVIG.
新生儿血色沉着症（NH）是一种罕见的、通常致命的疾病，其特征为肝衰竭以及肝脏和肝外铁过载。临床表现可在子宫内或出生后立即出现。有证据表明，大多数病例是由于一种妊娠期疾病，母体IgG抗体经胎盘转移至胎儿肝脏，导致免疫损伤。同种免疫靶点被认为是胎儿肝细胞表面抗原，随后补体激活导致肝细胞严重丧失和胎儿铁过载。这一系列事件导致急性肝衰竭和新生儿死亡。鉴于妊娠期同种免疫性肝病（GALD）是大多数NH病例的肝损伤机制，静脉注射免疫球蛋白（IVIG）和换血治疗的新范式已成功应用。我们描述了一名病情极其严重的NH新生儿，经三剂IVIG成功治疗。
