Disparate clinical presentation of neonatal hemochromatosis in twins

Udeme D. Ekong, Susan Kelly, Peter F. Whitington*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)e880-e884
JournalPediatrics
Volume116
Issue number6
DOIs
StatePublished - Dec 2005

Keywords

  • Ferritin
  • Neonatal hemochromatosis
  • Neonatal liver failure
  • α-fetoprotein

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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