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neonatal hemochromatosis; neonatal giant cell hepatitis
Epidemiology: rare
Pathology:
1) hepatic failure in the newborn period
2) heavy iron staining in the liver
3) hepatitis with giant cells
4) siderosis of extrahepatic tissues
- liver, pancreas, heart, endocrine glands
5) extrahepatic reticuloendothelial system relatively unaffected
Genetics:
1) autosomal recessive
2) mutations in the CYP7B1 gene
Clinical manifestations:
1) rapidly progressive clinical course with death in utero or in the early neonatal period
2) no hemolytic disease, hemosiderosis, or iron overload from blood transfusions
3) hemorrhage
4) fatal renal & hepatic failure
Laboratory:
- serum glucose (hypoglycemia)
Related
cytochrome P450 7B1 (CYP7B1, oxysterol 7-alpha-hydroxylase)
General
hemochromatosis
neonatal disorder or disease
Database Correlations
OMIM 231100
References
OMIM :accession 231100