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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]
Clinical jaundice appearing in the first 24 hours or greater than 14 days of life. Increases in the level of total bilirubin by more than 8.5 μmol/L (0.5 mg/dL) per hour or (85 μmol/L) 5 mg/dL per 24 hours. Total bilirubin more than 331.5 μmol/L (19.5 mg/dL) (hyperbilirubinemia). Direct bilirubin more than 34 μmol/L (2.0 mg/dL).
Hyperbilirubinemia is a clinical condition describing an elevation of blood bilirubin level due to the inability to properly metabolise or excrete bilirubin, a product of erythrocytes breakdown. In severe cases, it is manifested as jaundice , the yellowing of tissues like skin and the sclera when excess bilirubin deposits in them. [ 1 ]
The AAP recommends "In isoimmune hemolytic disease, administration of intravenousγ-globulin (0.5-1 g/kg over 2 hours) is recommended if the TSB is rising despite intensive phototherapy or the TSB level is within 2 to 3 mg/dL (34-51 μmol/L) of the exchange level .
Infant undergoing bili light therapy in a United States maternity ward. A bili light [1] [2] is a light therapy tool to treat newborn jaundice (hyperbilirubinemia).High levels of bilirubin can cause brain damage (kernicterus), leading to cerebral palsy, auditory neuropathy, gaze abnormalities and dental enamel hypoplasia.
Lucey–Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. [1] It is one of several disorders classified as a transient familial neonatal unconjugated hyperbilirubinemia .
If the bilirubin level is sufficiently high as to cause worry, it can be lowered via phototherapy in the first instance or an exchange transfusion if severely elevated. [citation needed] Phototherapy - Phototherapy is used for cord bilirubin of 3 or higher. Some doctors use it at lower levels while awaiting lab results. [19]
There are additional rare causes of hereditary hyperbilirubinemia like Lucey-Driscoll syndrome and Heme Oxygenase-1 Deficiency. [1] Both Gilbert syndrome and Crigler-Najjar syndrome cause an elevated unconjugated bilirubin level due to mutations in the UGT1A1 gene, which conjugates bilirubin within liver cells so it can be excreted.