Hyperbilirubinemia transient familial neonatal
Type of disease: Rare conditions
Hyperbilirubinemia transient familial neonatal is a rare condition that involves extremely high levels of bilirubin in babies’ blood. Bilirubin is a product that is yellow in color and is usually present the most in the liver, gallbladder, and urine. When bilirubin levels get too high in the blood, they are poisonous to the brain. As a result of high bilirubin levels, babies born with this condition may experience yellow skin (called jaundice), yellow eyes, and extreme tiredness. If the condition is not treated, it can cause seizures and other severe brain problems.
Hyperbilirubinemia transient familial neonatal can either be caused by specific substances that are passed through breast milk from the mother to the baby, or it can caused by changes in a gene called UGT1A1. Our genes are what control the growth, development, and function of our bodies. If a mistake or error occurs in a gene, this is called a mutation. A mutation causes the gene to not work properly. The way in which the UGT1A1 gene is passed on to cause hyperbilirubinemia transient familial neonatal is not currently known.
Doctors can diagnose hyperbilirubinemia transient familial neonatal shortly after birth by looking at the baby’s clinical symptoms. Treatment for the condition usually includes phototherapy, or shining a blue light on the baby’s skin to decrease the levels of bilirubin in the body. Sometimes, if the levels of bilirubin are too high, the baby’s blood may need to be replaced with blood from a donor. Babies who are treated for the condition usually have a good outcome and can live normal lives.
If you or a family member has been diagnosed with hyperbilirubinemia transient familial neonatal, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.