Rare, Hereditary Conditions: Crigler-Najjar Syndrome

Crigler-Najjar syndrome is an extremely rare genetic disease. With only 100 cases recorded, it often affects children from Amish and Mennonite families.

To meet some of the children on the liver transplant waiting list and to learn about becoming a living donor, visit UPMC.com/BeADonor.

Bilirubin is a brownish yellow waste product found in bile that is created when the liver breaks down old red blood cells. Crigler-Najjar syndrome occurs when the liver is unable to filter bilirubin out of the body leaving high levels of poisonous bilirubin in the blood.

Types of Crigler-Najjar Syndrome

There are two types of Crigler-Najjar syndrome:
Type I –  This happens when an essential liver enzyme called glucuronosyl transferase is absent. This form of Crigler-Najjar syndrome can be life-threatening.
Type II – This occurs when the liver enzyme is still present but is very limited. These children will have much milder symptoms than those with Type I.

Signs and Symptoms for Crigler-Najjar Syndrome
Jaundice is the most common symptom of Crigler-Najjar. This is when a child’s eyes and skin take on a yellow tone. Other symptoms include:

• Abdominal pain
• Diarrhea and vomiting
• Fever
• Confusion
• Slurred speech
• Trouble swallowing
• Seizures

Treatments for Crigler-Najjar Syndrome
The first treatment option for children with Crigler-Najjar syndrome is phototherapy. During this procedure, the child’s skin is exposed to a very bright LED light, similar to a tanning bed. This light breaks down bilirubin so that it is no longer toxic. While helpful, phototherapy is a difficult procedure requiring many hours of therapy each day.

Children with Crigler-Najjar syndrome may also receive a liver transplant. Because the healthy liver can convert bilirubin and remove it from the body, a liver transplant can be life-saving.

Why Living-Donor Liver Transplantation
During a liver transplant, a child’s unhealthy liver is removed and replaced with a liver from a deceased donor or a living-liver donor can donate a portion of their liver to help the child. However, the wait for a transplant from a deceased donor can take years. A living-donor liver transplant can help eliminate the wait for children with Crigler-Najjar syndrome.

During a living donor transplant, a healthy adult has a portion of their liver removed and transplanted into a child in need.

A healthy donor must:

• Be between the ages of 18 and 55
• Be in good physical and mental health
• Have a BMI less than or equal to 32
• Not engage in active ongoing drug or substance abuse
• Have an unselfish desire to contribute to another person’s life in a healthy way

A donor must also be in good general health and have no history of:

• Liver disease, including cirrhosis and hepatitis
• Significant diseases involving the other organs — lung, kidney, and heart
• Pulmonary hypertension
• Active malignant cancers

By becoming a living donor for a child with Crigler-Najjar syndrome, you can help to reduce the transplant waiting list and give that child a second chance at life.