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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Disparate Clinical Presentation of Neonatal Hemochromatosis in Twins
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Disparate Clinical Presentation of Neonatal Hemochromatosis in Twins

机译:双胞胎新生儿血色素沉着病的不同临床表现

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Neonatal hemochromatosis (NH) is a rare disease of gestation that results in fetal liver injury and extrahepatic siderosis. The etiology of NH is not fully understood. However, the rate of recurrence of NH in the pregnancy after an affected one is ~80%. A spectrum of liver disease has been recognized, spanning from liver failure in the fetus or neonate to infants that survive with medical therapy. Here we report on 2 sets of fraternal twins, each set with a gross disparity in the severity of presentation: 1 infant with liver failure and the other nearly unaffected. These findings suggest a need to look carefully for subclinical disease in the siblings of patients with NH by using sensitive tests such as those for ferritin and α-fetoprotein. They also suggest that affected infants may be missed when using routine clinical testing, which would lead to the apparent rate of recurrence, understating the actual recurrence rate.
机译:新生儿血色素沉着病(NH)是一种罕见的妊娠疾病,可导致胎儿肝损伤和肝外铁化病。 NH的病因尚不完全清楚。但是,患NH的孕妇中NH的复发率为〜80%。已经认识到一系列肝脏疾病,从胎儿或新生儿的肝衰竭到可以通过药物治疗存活的婴儿。在这里,我们报告了两组异卵双胞胎,每组在表现的严重程度方面存在巨大差异:1例患有肝衰竭的婴儿,另一例几乎未受影响。这些发现表明,需要通过使用敏感的检测方法(如铁蛋白和α-甲胎蛋白检测)仔细检查NH患者兄弟姐妹的亚临床疾病。他们还建议,在使用常规临床检测时可能会漏诊患病婴儿,这将导致明显的复发率,低估了实际的复发率。

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