Neonatal hemochromatosis

Neonatal hemochromatosis
Neonatal hemochromatosis is inherited in an autosomal recessive manner
Classification and external resources
ICD-10 E83.1
OMIM 231100
DiseasesDB 34508
Orphanet 446

Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests that it may be alloimmune condition. Its characteristics are similar to hereditary hemochromatosis, where iron deposition causes damage to the liver and other organs and tissues.

Causes

The causes of neonatal hemochromatosis are still unknown, but recent research has led to the hypothesis that it is an alloimmune disease (see alloimmunity). Evidence supporting this hypothesis includes the high recurrence rate within sibships (>80%). This evidence along with other research indicates that neonatal hemochromatosis could be classified as a congenital alloimmune hepatitis.[1]

Diagnosis

Differential diagnosis

The condition is sometimes confused with juvenile hemochromatosis, which is a hereditary hemochromatosis caused by mutations of a gene called hemojuvelin. While the symptoms and outcomes for these two diseases are similar, the causes appear to be different.

Treatment

Effective treatment of the disease has been confined to liver transplants. Success has also been reported with an antioxidant chelation cocktail, though its effectiveness cannot be confirmed. Based on the alloimmune cause hypothesis, a new treatment involving high-dose immunoglobulin to pregnant mothers who have had a previous pregnancy with a confirmed neonatal hemochromatosis outcome, has provided very encouraging results.[2]

References

  1. ↑ Whitington PF (August 2007). "Neonatal hemochromatosis: a congenital alloimmune hepatitis". Semin Liver Dis. 27 (3): 243–250. PMID 17682971. doi:10.1055/s-2007-985069.
  2. ↑ Whitington PF, Hibbard JU (November 6–12, 2004). "High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis". The Lancet. 364 (9446): 1690–8. PMID 15530630. doi:10.1016/S0140-6736(04)17356-X.

Further reading

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