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Neonatal cholestasis refers to elevated levels of conjugated bilirubin identified in newborn infants within the first few months of life. [1] Conjugated hyperbilirubinemia is clinically defined as >20% of total serum bilirubin or conjugated bilirubin concentration greater than 1.0 mg/dL regardless of total serum bilirubin concentration. [2]
The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast feeding-associated jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones).
Direct bilirubin more than 34 μmol/L (2.0 mg/dL). The signs which help detect pathological jaundice are the presence of intrauterine growth restriction , stigma of intrauterine infections (e.g. cataracts , small head , and enlargement of the liver and spleen ), cephalohematoma , bruising, signs of bleeding in the brain's ventricles.
Rotor type hyperbilirubinemia is a distinct yet similar disorder to Dubin–Johnson syndrome [1] – both diseases cause an increase in conjugated bilirubin, but Rotor syndrome differs in that it is a result of impaired hepatocellular storage of conjugated bilirubin that leaks into plasma causing hyperbilirubinemia.
The syndrome cannot cause severe indirect hyperbilirubinemia in neonates by itself, but it may have a summative effect on rising bilirubin when combined with other factors, [10] for example in the presence of increased red blood cell destruction due to diseases such as G6PD deficiency.
The conjugated hyperbilirubinemia is a result of defective endogenous and exogenous transfer of anionic conjugates from hepatocytes into bile. [5] Impaired biliary excretion of bilirubin glucuronides is due to a mutation in the canalicular multiple drug-resistance protein 2 (MRP2). A darkly pigmented liver is due to polymerized epinephrine ...
The varied causes of hyperbilirubinemia are best understood from bilirubin metabolism. The total average daily production of bilirubin in humans is 4 mg/kg. 80% of which is derived from haemoglobin (Hb) produced by erythrocyte breakdown, with the remaining from heme proteins , like myoglobin and cytochrome , turnover. [ 5 ]
Hereditary hyperbilirubinemia refers to a group of conditions where levels of bilirubin, a byproduct of red blood cell metabolism, are elevated in the blood due to a genetic cause. [1] Various mutations of enzymes in the liver cells, which breakdown bilirubin, cause varying elevated levels of bilirubin in the blood. [ 2 ]