Whitington Peter F
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Children's Memorial Hospital, Chicago, Illinois, USA.
Semin Liver Dis. 2007 Aug;27(3):243-50. doi: 10.1055/s-2007-985069.
Neonatal hemochromatosis (NH) is a rare and enigmatic disease that has been clinically defined as severe neonatal liver disease in association with extrahepatic siderosis. It recurs at an alarming rate in the offspring of certain women; the rate and pattern of recurrence led us to hypothesize that maternal alloimmunity is the likely cause at least of recurrent cases. This hypothesis led to a trial of gestational treatment to prevent the recurrence of severe NH, which has been highly successful adding strength to the alloimmune hypothesis. Laboratory proof of an alloimmune mechanism has been gained by reproducing the disease in a mouse model. NH should be suspected in any very sick newborn with evidence of liver disease and in cases of late intrauterine fetal demise. Given the pathology of the liver and the mechanism of liver injury, NH could best be classified as congenital alloimmune hepatitis.
新生儿血色沉着症（NH）是一种罕见且神秘的疾病，临床上被定义为与肝外铁沉积相关的严重新生儿肝病。在某些女性的后代中，该病以惊人的速度复发；复发率和模式使我们推测，母体同种免疫至少是复发病例的可能病因。这一假说促使我们进行了一项妊娠期治疗试验，以预防严重NH的复发，该试验取得了巨大成功，为同种免疫假说提供了有力支持。通过在小鼠模型中重现该疾病，已获得同种免疫机制的实验室证据。任何患有肝病证据的重病新生儿以及晚期宫内胎儿死亡病例都应怀疑患有NH。鉴于肝脏的病理状况和肝损伤机制，NH最好归类为先天性同种免疫性肝炎。
