Crigler-Najjar syndrome is a hereditary disease characterized by high levels of indirect bilirubin in the blood. Bilirubin is a yellow pigment in the blood, which is formed when red blood cells are broken down naturally. The first bilirubin formed after the breakdown of blood cells is indirect bilirubin. Indirect bilirubin will enter the liver, converted into direct bilirubin so that it can be excreted through urine and feces.
Symptoms of Crigler-Najjar . Syndrome
Symptoms that appear in patients with Crigler-Najjar syndrome include:
- Yellow discoloration of the skin and whites of the eyes (jaundice), which appears a few days after birth, and gets worse over time
- Confusion and change in mindset
- Lethargy, or tired physically and mentally
- No appetite
- Throw up
Causes of Crigler-Najjar Sindrom Syndrome
Crigler-Najjar syndrome is caused by a mutation in the gene UGT1A1. Gene UGT1A1 plays a role in producing the bilirubin UGT enzyme, which is an enzyme that functions to convert indirect bilirubin into direct bilirubin. This reaction makes bilirubin easily soluble in water, so it can be excreted by the body. Mutations in the UGT1A1 gene cause a decrease in the function of the bilirubin enzyme UGT (Crigler-Najjar syndrome type 2) or inactivity (Crigler-Najjar syndrome type 1). In Crigler-Najjar syndrome type 2, the function of the UGT bilirubin enzyme is only about 20 percent. Both of these conditions cause indirect bilirubin cannot be converted into direct bilirubin, so that indirect bilirubin accumulates in the blood and causes jaundice.
Crigler-Najjar syndrome is an autosomal recessive disease. In other words, a person can suffer from this disease, if the UGT1A1 gene mutation occurs in both parents. Meanwhile, if the gene mutation is inherited from only one parent, a person can develop Gilbert's syndrome, a condition that is milder than Crigler-Najjar syndrome.
Diagnosis of Crigler-Najjar . Syndrome
Doctors can suspect a patient has Crigler-Najjar syndrome, if there are a number of symptoms that have been described previously. But to be sure, the doctor can run a number of examinations such as:
Measurement of bilirubin levels
Measurement of bilirubin levels is done by taking a sample of the patient's blood, to be examined in the laboratory. In Crigler-Najjar syndrome type 1, bilirubin levels are in the range of 20-50 mg/dL. Meanwhile, bilirubin levels in Crigler-Najjar syndrome type 2 range from 7-20 mg/dL.
Liver function check
In patients with Crigler-Najjar syndrome, liver enzyme levels are generally checked during liver function tests, are in the normal range. However, in some cases, liver enzyme levels can increase due to intrahepatic cholestasis, which is a condition where bile flow is blocked in the liver.
Treatment of Crigler-Najjar . Syndrome
Treatment of Crigler-Najjar syndrome depends on the type suffered, as will be explained below:
Treatment of Crigler-Najjar syndrome type 1
The first step taken by the doctor is the prevention of kernicterus, namely in the following ways:
- Blue light phototherapy. Phototherapy is the act of irradiating the entire body with blue light. Phototherapy should be done in the long term, so that bilirubin can be more easily excreted through the urine.
- Administration of calcium phosphate. Calcium phosphate is useful to help remove bilirubin.
- Exchange transfusion. Exchange transfusion is a procedure to replace the baby's blood with fresh blood from a donor. This procedure can be done up to several times.
Another method is liver transplantation. In some cases, doctors will recommend a liver transplant to avoid complications.
Treatment of Crigler-Najjar syndrome type 2
People with Crigler-Najjar syndrome type 2 can get better on their own without treatment. However, doctors can give the drug phenobarbital to lower bilirubin levels by 25 percent, within 2-3 weeks. In rare cases, some patients with Crigler-Najjar syndrome type 2 may also require exchange transfusion and phototherapy.
