Sergi C, Himbert U, Weinhardt F, Heilmann W, Meyer P, Beedgen B, Zilow E, Hofmann W J, Linderkamp O, Otto H F
Institute of Pathology, Department of Neonatology, University of Heidelberg, Germany.
Pathol Res Pract. 2001;197(10):699-709; discussion 711-3. doi: 10.1078/0344-0338-00148.
We report on a female preterm infant with hepatic failure and neonatal tissue siderosis of hemochromatotic type diagnosed by using both histochemistry and atomic absorption spectroscopy. The infant presented with meconium ileus, signs of rapidly progressive hepatic failure, and hyperferritinemia (7132 ng/ml). Despite surgery and intensive care the infant died 32 days after birth. Postmortem examination showed a wrinkled liver with extensive collapse of the hepatic architecture and regenerating nodules as well as hepatic and extrahepatic iron accumulation of hemochromatotic type, sparing the reticuloendothelial system. Atomic absorption spectroscopy confirmed an increase in the iron content of various organs: liver, heart, pancreas, oral salivary gland, kidney, and adrenal gland. The increase in the iron content of various organs was determined by comparing the analysis of the propositus with those of 5 gestationally age-related preterm infants who had died in the intensive care unit: 2 died of meconium aspiration syndrome, the other 3 of hyaline membrane disease, bronchopulmonary dysplasia, and immaturity, respectively. We also compared the analysis of 15 fetuses having a a condition predisposing to iron accumulation (trisomy 21, trisomy 18, cytomegalovirus, amnion infection syndrome, Rhesus- and ABO-incompatibility, congenital hemolysis, anti-phospholipid syndrome, congenital heart disease). Delta F508, the most frequent mutation seen in cystic fibrosis patients, was excluded by gene sequencing. Different noxae causing iron accumulation in the neonatal period have led to the statement that neonatal hemochromatosis may collect different etiologies, such as metabolic disorders, infections, chromosomal aberrations, and immunological disorders. In this study, we report the singular evidence of neonatal iron accumulation of hemochromatotic type in an infant presenting with meconium ileus and propose a classification of the neonatal disorders associated with iron accumulation.
我们报告了一名女性早产儿，通过组织化学和原子吸收光谱法诊断为肝衰竭和血色素沉着型新生儿组织铁沉着症。该婴儿表现为胎粪性肠梗阻、快速进展性肝衰竭体征和高铁蛋白血症（7132 ng/ml）。尽管进行了手术和重症监护，婴儿仍在出生后32天死亡。尸检显示肝脏皱缩，肝结构广泛塌陷并有再生结节，以及血色素沉着型的肝内和肝外铁蓄积，网状内皮系统未受累。原子吸收光谱法证实多个器官铁含量增加：肝脏、心脏、胰腺、口腔唾液腺、肾脏和肾上腺。通过将先证者的分析结果与5名在重症监护病房死亡的与孕周相关的早产儿进行比较，确定了各器官铁含量的增加：2名死于胎粪吸入综合征，另外3名分别死于透明膜病、支气管肺发育不良和未成熟。我们还比较了15例有铁蓄积易患因素（21三体、18三体、巨细胞病毒、羊膜感染综合征、恒河猴和ABO血型不合、先天性溶血、抗磷脂综合征、先天性心脏病）胎儿的分析结果。通过基因测序排除了囊性纤维化患者中最常见的Delta F508突变。新生儿期导致铁蓄积的不同病因促使人们提出新生儿血色素沉着症可能有不同病因，如代谢紊乱、感染、染色体畸变和免疫紊乱。在本研究中，我们报告了一名患有胎粪性肠梗阻的婴儿出现血色素沉着型新生儿铁蓄积的独特证据，并提出了与铁蓄积相关的新生儿疾病分类。
