de Boissieu D, Checoury A, Barbet P, Francoual C, Rochiccioli F, Badoual J
Service de Pédiatrie Générale, Hôpital Saint-Vincent-de-Paul, Paris.
Arch Fr Pediatr. 1990 Jan;47(1):23-8.
Perinatal hemochromatosis (PHC) is a rare disorder presumably autosomal recessive, responsible for foetal death or severe liver failure during the neonatal period. It is fatal in nearly all cases. Diagnosis relies on histologic examination, generally post mortem, which shows numerous iron deposits in the liver as well as other organs (pancreas, heart, thyroid...). The study of iron and of its ligands may have a diagnostic interest. The authors report 2 cases of PHC in one family, of whom one concerned child presented with biological signs evoking PHC on foetal blood at 31 weeks of pregnancy.
围产期血色素沉着症（PHC）是一种罕见的疾病，可能为常染色体隐性遗传，可导致胎儿死亡或新生儿期严重肝功能衰竭。几乎所有病例均为致命性。诊断依赖于组织学检查，通常是尸检，其显示肝脏以及其他器官（胰腺、心脏、甲状腺等）中有大量铁沉积。对铁及其配体的研究可能具有诊断意义。作者报告了一个家族中的2例PHC病例，其中1例患病儿童在妊娠31周时的胎儿血液中出现了提示PHC的生物学迹象。
