title: Neonatal hemochromatosis--medical treatment vs. transplantation: the king's experience.
abstract: 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.
authors.affiliation: Institute of Liver Studies, King's College London School of Medicine, King's College Hospital, London, UK.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Rodrigues
authors.forename: Marcia
authors.initials: M
authors.lastname: Kallas
authors.forename: Ruth
authors.initials: R
authors.lastname: Nash
authors.forename: Paul
authors.initials: P
authors.lastname: Cheeseman
authors.forename: Lorenzo
authors.initials: L
authors.lastname: D'Antiga
authors.forename: Mohamed
authors.initials: M
authors.lastname: Rela
authors.forename: Nigel D
authors.initials: ND
authors.lastname: Heaton
authors.forename: Giorgina
authors.initials: G
authors.lastname: Mieli-Vergani
mesh_terms: D000975:Antioxidants / Q000627:therapeutic use*; D002614:Chelating Agents / Q000627:therapeutic use*; D015331:Cohort Studies; D004359:Drug Therapy, Combination; D005260:Female; D005500:Follow-Up Studies; D006432:Hemochromatosis / Q000175:diagnosis / Q000188:drug therapy* / Q000401:mortality / Q000601:surgery*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000401:mortality / Q000601:surgery; D016031:Liver Transplantation / Q000009:adverse effects / Q000379:methods*; D008297:Male; D011336:Probability; D012189:Retrospective Studies; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D016019:Survival Analysis; D016896:Treatment Outcome; D006113:United Kingdom
chemical_list: D000975:Antioxidants; D002614:Chelating Agents