Wisser J, Schreiner M, Diem H, Roithmeier A
Department of Obstetrics and Gynecology, Klinikum Grosshadern, University of Munich, FRG.
Fetal Diagn Ther. 1993 Jul-Aug;8(4):273-8. doi: 10.1159/000263839.
Neonatal hemochromatosis is a rare inherited disorder of iron metabolism in which various tissues contain excessive amounts of iron. Only in a very few cases in which the disease is associated with fetal nonimmune hydrops is there the possibility for prenatal diagnosis. We present a case of fetal nonimmune hydrops fetalis in which severe fetal anemia and elevated liver enzymes were found. Retrospectively, according to pathological examination, these were signs of neonatal hemochromatosis. Only the knowledge of the disease entity allows antenatal diagnosis and rational perinatal management.
新生儿血色素沉着症是一种罕见的铁代谢遗传性疾病,各种组织中含有过量的铁。只有在极少数该疾病与胎儿非免疫性水肿相关的情况下,才有产前诊断的可能性。我们报告一例胎儿非免疫性水肿病例,其中发现严重胎儿贫血和肝酶升高。回顾性地,根据病理检查,这些是新生儿血色素沉着症的迹象。只有了解该疾病实体才能进行产前诊断和合理的围产期管理。