Case 19: Gilbert Syndrome
Terms in this set (17)
If a healthy formula fed baby develops jaundice at day 12, but everything else is normal, what is the most likely diagnosis?
What is physiologic jaundice of the newborn due to?
Physiologic jaundice is jaundice that occurs in the first 10 days of an infants life that is typically due to decreased activity of UDP-glucouronyltransferase and increased RBC destruction
What is the defect in Gilbert syndrome?
In Gilbert syndrome there is decreased activity of UDP glucouronyl-transferase leading to elevated levels of unconjugated bilirubin.
What are some conditions that should be included in the differential for Gilbert syndrome?
RBC hemolysis, decreased transmission of unconjugated bilirubin to the liver, and liver enzyme deficiencies such as Crigler-Najar
What is conjugated bilirubin?
Bilirubin that has a glucouronide attached to it by glucouronyltransferase which makes it soluble
What is erythroblastosis fetalis?
Increased RBC destruction because of transplacental maternal antibody passage that kills the fetal red blood cells
In hemolysis will there be a rise in conjugated or unconjugated bilirubin?
A rise in conjugated bilirubin
What is the name for the neurologic manifestation of hyperbilirubinemia?
Kernicterus. This is a result of the deposition of unconjugated bilirubin in fetal brain cells. this leads to lethargy, poor feeding, and loss of the Moro reflex
What is the definition of polycythemia in an infant?
A hematocrit greater than 65
Who gets physiologic jaundice more commonly: preterm or term infants?
Preterm infants because there UDP-glucouronyltransferase has not had the chance to develop fully
At how many days of life does physiologic jaundice typically start?
3-4 days of life, at this time the normal bilirubin concentrations would be between 5 and 6
What is the differential for jaundice that presents in the first 24 hours of life?
Erythroblastosis fetalis, hemorrhage, sepsis, CMV inclusion disease, rubella, congenital toxoplasmosis
What is breast feeding jaundice?
In breast feeding jaundice the infant is not breastfeeding enough which means that they are not having enough bowel movements to flush out the bilirubin
What is breast milk jaundice?
In breast milk jaundice breast milk contains the enzyme glucouronidase which is responsible for deconjugating stercobilingen and allowing it to be reabsorbed.
How high can the bilirubin levels get in children with breast milk jaundice?
Up to has high as 30. In these cases formula should be substituted for a few days
How is unconjugated hyperbilirubinemia in an infant often treated?
With phototherapy. The light does not conjugate bilirubin but isomerized the unconjugated bilirubin to an excretable form.
Which medication can be used to treat Crigler Nigar type II, and decreases the risk of neurological damage due to jaundice?
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