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Neonatal hemochromatosis

Orpha number ORPHA446
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10
  • E83.1
ICD-O -
OMIM
UMLS
  • C0268059
MeSH
  • C536394
MedDRA -

Summary

Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin. Clinical signs occur as early as 48 hours after birth and are characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. Although the diagnosis may be suspected following measurement of transaminase activity, it can only be confirmed by demonstrating the generalized iron overload affecting the salivary glands, liver and pancreas, among other organs. The disease is fatal and the limited efficiency of antioxydant treatment does not allow liver transplantation to be delayed, despite the fact that this operation is of high risk in neonates. The underlying cause of this iron storage disorder is unknown but it may be associated with an anomaly in placental iron transfer. A Recent study described a treatment with high-dose intravenous immunoglobulin (IVIG) administered during gestation to women whose most recent pregnancy ended in documented NH. This therapy appears to be effective in preventing or changing the severity of neonatal hemochromatosis and supports the hypothesis of an alloimmune mechanism for this disorder.

Expert reviewer(s)

  • Pr Jean-Marie SAUDUBRAY

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Detailed information

Review article
  • EN (2007,pdf)
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