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Neonatal hemochromatosis — medical treatment vs. transplantation: The king's experience
Author(s) -
Rodrigues Fernanda,
Kallas Marcia,
Nash Ruth,
Cheeseman Paul,
D'Antiga Lorenzo,
Rela Mohamed,
Heaton Nigel D.,
MieliVergani Giorgina
Publication year - 2005
Publication title -
liver transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.814
H-Index - 150
eISSN - 1527-6473
pISSN - 1527-6465
DOI - 10.1002/lt.20497
Subject(s) - medicine , transplantation , liver transplantation , chelation therapy , pediatrics , surgery , thalassemia
The aim of our study was to compare the outcome of medical treatment vs. liver transplantation in infants with neonatal hemochromatosis (NH) referred to King's College Hospital from 1990‐2002. We conducted a retrospective review of 19 children from 14 families. Fifteen children presented at birth and 4 during the first week of life. One child was diagnosed by cordocentesis at 30 weeks of gestation. NH recurred in 7 of 9 families with further children. In one family, 2 children from different fathers were affected. All patients had elevated ferritin levels, hypoalbuminemia, and coagulopathy. Liver histology showed parenchymal collapse, diffuse fibrosis, and moderate to severe hepatocyte hemosiderin deposition. Extrahepatic siderosis was demonstrated by magnetic resonance in 2 patients, lip biopsy in 3, and autopsy in 10. Ten patients received a chelation‐antioxidant cocktail: 1 survived, 4 died, and 5 required liver transplantation, of whom 2 died. One of the 9 infants who did not receive the cocktail survived with medical support, 3 died, and 5 required transplantation, of whom 3 died. Seven children are alive, 5 after transplantation, at a median follow‐up of 5.6 years, with excellent quality of life and no recurrence of the disease. In conclusion, chelation‐antioxidant treatment does not appear to modify the prognosis of NH, at least in severe cases. Liver transplantation, with 50% long‐term survival, remains the treatment of choice and should be promptly offered to those infants who do not improve with supportive medical treatment. (Liver Transpl 2005;11:1417–1424.)