Chase M C, Riedinger D
Neonatal Netw. 1995 Oct;14(7):7-12.
Hemochromatosis is the excess accumulation of iron in tissue affecting a variety of organ systems leading to hepatic fibrosis and multiorgan system failure. When excess iron accumulation occurs in utero, as with neonatal hemochromatosis, the infant may be stillborn or present with advanced, overwhelming liver disease. Hepatic failure in the newborn encompasses a wide variety of disease entities, and formulation of a differential diagnosis presents a challenge for the clinician. This article reviews one case of neonatal hemochromatosis that was diagnosed and successfully treated. Iron metabolism and overload are discussed, as well as clinical manifestations, current treatment, and the potential for prenatal diagnosis in the future.
血色素沉着症是铁在组织中过度蓄积，影响多种器官系统，导致肝纤维化和多器官系统衰竭。当在子宫内发生铁过度蓄积时，如新生儿血色素沉着症，婴儿可能死产或出现晚期严重肝病。新生儿肝衰竭包括多种疾病实体，制定鉴别诊断对临床医生来说是一项挑战。本文回顾了一例已诊断并成功治疗的新生儿血色素沉着症病例。讨论了铁代谢和铁过载，以及临床表现、当前治疗方法和未来产前诊断的可能性。
