Dalhøj J, Kiaer H, Wiggers P, Grady R W, Jones R L, Knisely A S
Arvepatologisk Institut, Odense Universitet, Denmark.
Am J Med Genet. 1990 Nov;37(3):342-5. doi: 10.1002/ajmg.1320370310.
Neonatal hemochromatosis (NH), an uncommon and generally fatal disorder of infancy, is defined by hepatic disease of antenatal onset, generally manifest at birth, and by stainable iron in a tissue distribution like that seen in heritable adult-onset hemochromatosis (HH). It is not known if parents and sibs of infants with NH are at risk of iron storage disease in later life. We provide 30-year follow-up for iron overload of a family in which 6 of 9 children died in utero or early in the neonatal period. Four of the 6 came to autopsy, where severe liver disease was found; in 3 of the 4, autopsy material could be reviewed. These 3 children had NH. Studies 30 years later did not identify HH or other iron storage disease in the parents or surviving sibs. These findings suggest that first-degree relatives of persons with NH are not necessarily at increased risk of iron storage disease in later life.
新生儿血色病（NH）是一种罕见且通常致命的婴儿期疾病，其定义为产前发病的肝脏疾病，一般在出生时即表现出来，并且在组织分布中存在可染色铁，其分布类似于遗传性成人发病血色病（HH）所见。尚不清楚NH患儿的父母和兄弟姐妹在晚年是否有患铁储存疾病的风险。我们对一个家庭的铁过载情况进行了30年的随访，该家庭9个孩子中有6个在子宫内或新生儿早期死亡。6个孩子中有4个进行了尸检，发现有严重的肝脏疾病；4个中有3个的尸检材料可供复查。这3个孩子患有NH。30年后的研究未在其父母或存活的兄弟姐妹中发现HH或其他铁储存疾病。这些发现表明，NH患者的一级亲属在晚年不一定有患铁储存疾病的风险增加。
