go back

HEMOCHROMATOSIS, NEONATAL

HEMOCHROMATOSIS, NEONATAL
GIANT CELL HEPATITIS, NEONATAL
231100
OMIM = Online Mendelian Inheritance of Men
446
8q21.3
E83.1
rare
autosomal recessive
Gestational alloimmune liver disease (GALD) has been established as the
cause of fetal liver injury resulting in nearly all cases of NH [Feldmann AG 2013]
Laboratory findings    Albumin dec (serum)
    D-Glucose dec (blood)
    D-Lactic acid normal/inc (blood)
    Ferritin inc (serum)
    Hemoglobine dec (blood)
    Iron inc (liver)
    L-Tyrosine normal/inc (plasma)
    Methionine normal/inc (plasma)
    Protein, total dec (serum)
Symptoms    anemia
    ascites
    bleeding tendencies, hemorrhages
    cholestasis
    cirrhosis or fibrosis of liver
    Coagulopathy/Coagulation factors
    Coagulopathy/Coagulation factors
    early death
    encephalopathy
    hydrops fetalis
    hypoglycemia
    jaundice
    lactic acidosis
    liver failure
    liver involvement or dysfunction
    MRI, liver, abnormalities [-]
    oligohydramnion (maternal)
    onset, fetus
    onset, infancy
    onset, neonatal
    pleural effusions
    polyhydramnion (maternal)
    small for gestational age (SGA), intrauterine growth retardation (IUGR)
    thrombopenia, thrombocytopenia