Download PDF. 1 / 2 Pages. Previous article. Go back to website. Hemocromatosis neonatal: otra entidad que deja de ser huérfana. Avances en el diagnóstico y manejo de la principal causa de fallo hepático agudo neonatal. Neonatal hemochromatosis. In this severe disorder, iron builds up rapidly in the liver of the developing fetus. It is thought to be an autoimmune.
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CC HPO: In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas Driscoll et al. Whitington postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder.
Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis see, e.
Whitington proposed the term ‘congenital alloimmune hepatitis. In the past, the disorder has loosely been labeled ‘neonatal hepatitis’ and ‘giant cell hepatitis,’ which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others Fawaz et al. Both parents of 1 patient reported by Knisely et al. A bleeding diathesis is often observed. The authors suggested that neonatal hemochromatosis is one of several entities causing the heterogeneous category of disorders often termed giant cell hepatitis, because of pathologic liver findings.
All patients presented at birth, neonatxl the clinical course was characterized by hypoglycemia, hemorrhagic diathesis, and fatal renal and hepatic failure. Postmortem examination showed hepatic fibrosis with a distinctive pattern of iron distribution in the hepatocytes, pancreatic acinar hemocrmoatosis, and myocardium.
Orphanet: Hemocromatosis neonatal
In 1 family, both parents had normal levels of serum iron, iron binding capacity, transferrin, and ferritin levels, but had persistently abnormal liver function tests, which the authors suggested was consistent with mild expressivity of a heterozygous state. In that same family, neither parent nor their 1 infant had the HLA types associated with hereditary hemochromatosis The authors noted that the clinical course and pathologic findings are distinct from those of Zellweger syndrome seehereditary tyrosinemiaand leprechaunismin which hepatic siderosis is also seen.
No evidence of hereditary hemochromatosis or other iron storage disease was found in the parents or surviving sibs. Postmortem examination showed excessive iron deposition in hepatocytes, diffuse hepatic cirrhosis, hepatocellular necrosis, cholestasis, and giant cell transformation. No hemosiderin was detected in the extrahepatic mononuclear-phagocytic cells of the spleen, lymph nodes, or bone marrow.
neonatzl Fetal liver disease had its onset in the late second trimester of pregnancy and was reflected by hemocromatoais panhypoproteinemia with non-immune hydrops. Hyperbilirubinemia and hemorrhagic diatheses were apparent in the newborns. The most common presenting features were jaundice, hypoglycemia, and hepatic failure. Postmortem examination in several patients showed fibrosis with cirrhosis, giant cell transformation, marked iron deposition in hepatocytes, and hepatocelluar necrosis with cholestasis, as well as extensive iron deposition in the myocardium, pancreatic acinar cells, and renal tubules.
OMIM Entry – – HEMOCHROMATOSIS, NEONATAL
Thirty of the patients had died at the time of the report. In a detailed review of the neonatal hemochromatosis, Whitington noted that liver disease is generally apparent within hours of birth and is one of the most commonly recognized causes of liver failure in the neonate.
In rare cases, the liver disease takes a prolonged course and is manifest days to weeks after birth. Late-second and third trimester fetal loss is also commonly observed in the gestational histories of women who have had a baby with NH. Most affected liveborn babies show evidence hemocrommatosis fetal insult, such as intrauterine growth restriction and oligohydramnios, and premature birth is common.
The presenting clinical features include hypoglycemia, marked coagulopathy, hypoalbuminemia hmocromatosis edema with or without ascites, oliguria, jaundice, and increased serum conjugated and nonconjugated bilirubin. Pathology shows severe liver injury that is out of proportion to that seen in other forms of hemochromatosis.
There is cirrhosis and fibrosis, particularly in the lobule and around the central vein, and hemicromatosis granular siderosis. Regenerative nodules may be present. In some instances, almost no hepatocytes remain.
Siderosis may affect any of several tissues outside the liver. The prognosis in severe NH is generally very poor, with an average life ndonatal of days to a few weeks. There is a very high risk of recurrence in subsequent offspring of an affected woman.
Fienberg reported 2 pairs of male sibs with perinatal idiopathic hemochromatosis with giant cell hepatitis, and Laurendeau et al. They reported a 6-week-old girl with neonatal hemochromatosis whose mother had these autoantibodies associated with Sjogren syndrome see ; an older child had congenital heart block. In the first family, 2 successive girls were born of different fathers. In a second family, an affected brother and sister were followed by an affected half brother born after donor insemination.
These observations, as well neobatal a previous abstract describing 2 affected half sisters, revived a debate over the inheritance of neonatal hemochromatosis and suggested causation by a maternal factor. Four pedigrees had clear evidence of neonatal hemochromatosis associated nemocromatosis maternal infection, including coxsackievirus, E. One pedigree showed transmission of maternal antinuclear factor and ribonucleoprotein antibodies to the affected infants, and 2 families showed possible matrilineal inheritance of disease in maternal half sibs.
Fourteen pedigrees included affected and unaffected infants, and a single pedigree had all 4 infants neomatal by the condition born to consanguineous but otherwise healthy parents.
The authors suggested that these 14 pedigrees support autosomal recessive inheritance of this condition in at least some families. Whitington and Whitington and Kelly presented evidence that neonatal hemochromatosis is a gestational disease in which fetal liver injury leads to the phenotype in the neonate. Preliminary studies neonahal that pregnant mice injected with hemocromatois IgG from women whose babies had NH had pups with extensive hepatic injury and liver necrosis.
Based on the hypothesis that neonatal hemochromatosis gemocromatosis from maternal alloimmunity, Whitington and Kelly treated 48 women with a history of having an affected fetus with IV Ig. The gestational histories of these women demonstrated the high risk of occurrence of neonatal hemochromatosis: In contrast, with IV Ig gestational therapy, 53 at-risk gestations resulted in 3 failures and 52 infants who survived intact with medical therapy alone.
Two of the 3 failures were not related to NH; the remaining case was lost to follow-up. Whitington and Kelly concluded that most cases of neonatal hemochromatosis result from a gestational alloimmune disease and that the occurrence of severe neonatal hemochromatosis in at-risk pregnancies can be significantly reduced by treatment with high-dose intravenous Ig during gestation.
In 10 affected hemocromatoosis and 26 first-degree relatives in a total of 13 kindreds, they found no evidence for major rearrangements hmocromatosis deletions in genes studied, and found no evidence for linkage of neonatal hemochromatosis to HLA serotypes. In several families with neonatal hemochromatosis, Kelly et al.
Familial ‘giant-cell hepatitis’ in infancy: Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: A genetic study of neonatal obstructive jaundice. Repetitive maternal-fetal neonstal of fetal hepatitis B. Classification and genetic features of neonatal hemocromattosis Hepatitis foetalis med perinatal exitus letalis hos 4 soskende. Idiopathic neonatal hemochromatosis in siblings: Deltaoxosteroid 5-beta-reductase deficiency causing neonatal liver failure and hemochromatosis.
Abnormal bile acid metabolism and neonatal hemochromatosis: Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin.
Neonatal hemochromatosis NH is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. Hemocomatosis bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Clinical Synopsis Toggle Dropdown. CC ]. CCC ].
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