ABSTRACT
Neonatal hemochromatosis(NH) is a clinical syndrome of liver disease and pathologic sider osis of various extrahepatic tissues.NH is a form of secondary hemochromatosis in which severe fetal liver injury causes iron overload due to poor regulation of matemofetal iron flux.Gestational alloimmune liver disease (GALD) has been established as the cause of fetal liver injury resulting in nearly all cases of NH.GALD may produce subacute and chronic fetal liver injury (congenital cirrhosis) typical of NH.It may also produce acute injury and acute liver faihure of the ferus and newborn.Demonstration of extrahepatic-siderosis,which can be get by oral mucosa tissue biopsy or by magnetic resonance imaging of pancreas clinically,is necessary to make the diagnosis of NH.Diagnosis of GALD depends on immunohistochemistry for C5B-9 of a liver biopsy.Therapeutic strategy of NH,which based on its etiology of immune injury,is combination of exchange transfusion and administration of high-dose intravenous immunoglobulin.Prognosis of severe NH is poor and liver transplant often is necessary in babies of severe NH.Recurrence of sever NH can be prevented by treatment during gestation.
ABSTRACT
Neonatal hemochromatosis (NH) is a severe neonatal liver injury that is confirmed by extra-hepatic iron accumulation. Although a recent study described treating NH with exchange transfusions and intravenous immunoglobulin, liver transplantation should be considered for patients with severe liver failure that does not respond to other medical treatment. Herein, we report the case of a two-month-old female infant who presented with persistent ascites and hyperbilirubinemia. Her laboratory findings demonstrated severe coagulopathy, high indirect and direct bilirubin levels, and high ferritin levels. Abdominal magnetic resonance imaging presented low signal intensity in the liver on T2-weighted images, suggesting iron deposition. The infant was diagnosed with NH as a result of the clinical findings and after congenital infection and metabolic diseases were excluded. The infant was successfully treated with a living-donor liver transplantation. Living related liver transplantation should be considered as a treatment option for NH in infants.
Subject(s)
Female , Humans , Infant , Ascites , Bilirubin , Ferritins , Hemochromatosis , Hyperbilirubinemia , Immunoglobulins , Iron , Liver Failure , Liver Transplantation , Liver , Magnetic Resonance Imaging , Metabolic DiseasesABSTRACT
A case of neonatal hemochromatosis is reported in a premature 35-week infant who presented at birth with coffee ground vomiting and gradual appearance of grayish icter and colorless stool. Neonatal hemochromatosis was confirmed by elevated ferritin levels and extrahepatic siderosis detected in liver biopsy.
ABSTRACT
La hemocromatosis neonatal es una enfermedad hepática muy severa del recién nacido y se asocia a una alta mortalidad. Se cree que su etiología es de tipo aloinmune, debido a la presencia de un anticuerpo materno hasta ahora desconocido que interfiere con el metabolismo férrico del feto, llegando a producir gran morb i mortal ¡dad. Basándonos en esta teoría, el tratamiento materno con inmunoglobulinas intravenosas en gestaciones sucesivas podría prevenir el desarrollo de un nuevo cuadro de hemocromatosis neonatal. Se describe el caso de una gestante con un hijo anterior diagnosticado y fallecido neonatalmente por hemocromatosis, a la que en el embarazo actual se le trató con inmunoglobulinas intravenosas consiguiendo un hijo sano y vivo. Es el primer caso descrito en España y demuestra el éxito de esta terapia, tal como describe la literatura.
Neonatal hemochromatosis is a severe neonatal liver disease with a high mortality and recurrence rate. It is supposed to be a gestational alloimmune disease because of the existence of maternal antibodies against fetal hepatic metabolism. On the basis of this hypothesis, the administration of intravenous immunoglobulin has been reported as a successful treatment during the following pregnancy. We describe the first case of this treatment in Spain which confirms the data available in the literature.