Neonatal hemochromatosis

Neonatal hemochromatosis
Neonatal hemochromatosis is inherited in an autosomal recessive manner

Neonatal Hemochromatosis (or Congenital alloimmune hepatitis[1]) 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.

Signs and symptoms

The presentation of Neonatal hemochromatosis is as follows:[2]

  • Hepatic failure
  • Cholestasis

Causes

The causes of neonatal hemochromatosis are still unknown, but recent research has led to the hypothesis that it is an alloimmune disease. Evidence supporting this hypothesis includes the high rate among siblings (>80%). This evidence along with other research indicates that neonatal hemochromatosis could be classified as a congenital alloimmune hepatitis.[3]

Diagnosis

Neonatal hemochromatosis in a hypotrophic fetus with idiopathic non-immune hydrops - a)Ultrasound b,c)MRI d,e) virtual autopsy f)histological staining

The diagnosis of Neonatal hemochromatosis can be done via MRI[4]

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.[5]

References

  1. ↑ "Neonatal hemochromatosis (Concept Id: C0268059) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2023-12-13. Retrieved 2023-12-11.
  2. ↑ "Entry - 231100 - HEMOCHROMATOSIS, NEONATAL - OMIM". omim.org. Archived from the original on 2022-08-09. Retrieved 2023-12-11.
  3. ↑ Whitington PF (August 2007). "Neonatal hemochromatosis: a congenital alloimmune hepatitis". Semin Liver Dis. 27 (3): 243–250. CiteSeerX 10.1.1.562.7251. doi:10.1055/s-2007-985069. PMID 17682971.
  4. ↑ Chavhan, Govind B.; Kamath, Binita M.; Siddiqui, Iram; Tomlinson, Christopher (February 2022). "Magnetic resonance imaging of neonatal hemochromatosis". Pediatric Radiology. 52 (2): 334–339. doi:10.1007/s00247-021-05008-9. ISSN 1432-1998. Archived from the original on 2023-12-13. Retrieved 2023-12-11.
  5. ↑ Whitington PF, Hibbard JU (November 6–12, 2004). "High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis". The Lancet. 364 (9446): 1690–8. doi:10.1016/S0140-6736(04)17356-X. PMID 15530630. S2CID 25829660. Archived from the original on 2023-12-13. Retrieved 2022-03-10.

Further reading

Classification
External resources
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