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What

Transient Familial Neonatal Hyperbilirubinemia is an inherited disorder in which an affected child has high levels of bilirubin in the body. bilirubin is produced from the breakdown of hemoglobin, which is a part of red blood cells. hemoglobin is released when red blood cells become old, or are defective, and must be broken-down. High levels of bilirubin (hyperbilirubinemia) cause yellowing of the skin and eyes and this coloring is called jaundice. High levels of bilirubin are toxic to the brain and can lead to a condition called kernicterus. Kernicterus is a disorder that encompasses cerebral-palsy, hearing problems, vision abnormalities, and other related problems. Treatment is available and the goal of treatment is to reduce bilirubin levels to prevent this kind of damage.

Who

Transient Familial Neonatal Hyperbilirubinemia is rare. Certain ethic groups seem to be affected more often and Yemenite Jews and East Asians seem to have the highest frequency of this disorder.

Signs and Symptoms

Children with Transient Familial Neonatal Hyperbilirubinemia present with jaundice at birth. For some newborns the jaundice will begin soon after they begin breastfeeding. The jaundice usually begins in the head/face and progresses down to the trunk and limbs. Other symptoms include lethargy and poor feeding.

Possible Causes

Many children with Transient Familial Neonatal Hyperbilirubinemia have an autosomal recessive mutation (genetic change) in a gene named uridine diphosphate-glucuronosyltransferase. This gene normally makes a protein named glucuronyl transferase and is an enzyme necessary for bilirubin to be excreted from the body. bilirubin is normally excreted through the bile in the digestive system. In order for excretion to occur, bilirubin must first undergo a chemical reaction called conjugation. This reaction is carried out by the enzyme glucuronyl transferase. The cause of this disorder may be from a steroid-like substance found in the mother’s blood and milk that blocks the activity of the mutated glucuronyl transferase. Therefore, the bilirubin cannot be conjugated resulting in its build up in the blood.

Diagnosis

Many newborns have a physiological jaundice that resolves within the first several weeks after birth. Term newborns with Transient Familial Neonatal Hyperbilirubinemia will have jaundice at birth and even after three weeks of age. Their blood laboratory results show very high levels of bilirubin.

Treatment

Even though bottle-feeding reduces the level of bilirubin, it is usually not necessary to stop breastfeeding and this is not usually recommended. Phototherapy may be necessary and is a treatment that uses special lights to reduce the level of bilirubin by promoting its removal from the body. Exposure to sunlight is not very effective and is not recommended as a form of treatment. In some severe cases when phototherapy does not work, blood exchange transfusion may be necessary to remove the bilirubin. This is done in the neonatal intensive care unit and is necessary only in severe cases.

Prognosis

Most babies will eventually begin to normalize their blood levels of bilirubin. However, it is important that the baby’s blood bilirubin levels be monitored by a physician to ensure that they stay within the normal range. With treatment children with this disorder do very well and have no longstanding or permanent signs or symptoms.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Parents of Infants and Children with Kernicterus
This website has more information about kernicterus, hyperbilirubinemia, related topics and a community board. It is designed to be parent-friendly and requires a free membership.

Mayo Clinic
The Mayo Clinic’s website has information about jaundice. It provides general information about jaundice, its implications, and treatments.

March of Dimes
This is the March of Dimes informational page with general information about jaundice.

Google Search for Transient Familial Neonatal Hyperbilirubinemia

References and Sources

www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=237900 www.utdol.com/application/topic/print.asp?file=pedi_hep/2161&type=P&selectedTitle=2~2