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Neonatal jaundice is a yellowish discoloration of the white part of the eyes and skin in a newborn baby due to high bilirubin levels. [1] Other symptoms may include excess sleepiness or poor feeding. [ 1 ]
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. [citation needed]
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. [3] [6] Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. [7]
If neonatal cholestasis is suspected or an infant is presenting with jaundice after two weeks of life, total and conjugated bilirubin must be measured. [10] Neonatal cholestasis is present if conjugated bilirubin value is >20% of total serum bilirubin or if serum conjugated bilirubin concentration is greater than 1.0 mg/dL. [2]
The infant did not survive. [4] Signs of hemolytic disease of the newborn include a positive direct Coombs test (also called direct agglutination test), elevated cord bilirubin levels, and hemolytic anemia. It is possible for a newborn with this disease to have neutropenia and neonatal alloimmune thrombocytopenia as well.
The bilirubin-UGT enzyme performs a chemical reaction called glucuronidation. Glucuronic acid is transferred to unconjugated bilirubin, which is a yellowish pigment made when your body breaks down old red blood cells, [35] and then being converted to conjugated bilirubin during the reaction. Conjugated bilirubin passes from the liver into the ...
Symptoms often occur in newborns as they have red blood cells with decreased lifespans and increased blood concentrations causing increased bilirubin production. [2] The most severe symptom of hyperbilirubinemia in newborns is kernicterus or death.
Bilirubin should be tested from cord blood. [2] Ferritin - because most infants affected by HDN have iron overload, a ferritin must be run before giving the infant any additional iron. [8] Newborn Screening Tests - Transfusion with donor blood during pregnancy or shortly after birth can affect the results of the Newborn Screening Tests.