What Is Crigler-Najjar Syndrome ?

Crigler-Najjar Syndrome is a hereditary disease characterized by high levels of indirect bilirubin in the blood. Bilirubin is a yellow pigment found in blood that forms when red blood cells are broken down naturally. Bilirubin which is first formed after splitting of blood cells is indirect bilirubin. Indirect bilirubin will enter the liver and be converted into direct bilirubin so that it can be removed through feces and urine.


Symptoms of Crigler-Najjar Syndrome 
Symptoms that appear in patients with Crigler-Najjar syndrome include:

• Yellow on the skin and the white part of the eye (jaundice), which appears several days after birth, and worsens over time
• Confusion and change in mindset
• Letargi, or physically and mentally tired
• No appetite
• Gag

Causes of Crigler-Najjar Syndrome 
Crigler-Najjar syndrome is caused by mutations in the UGT1A1 gene. The UGT1A1 gene plays a role in producing UGT bilirubin enzymes, which are enzymes that function to change indirect bilirubin into direct bilirubin. This reaction makes bilirubin dissolve easily in water, so it can be discharged by the body. The UGT1A1 gene mutation causes a decrease in the function of the UGT bilirubin enzyme (type 2 Crigler-Najjar syndrome) or is completely inactive (type 1 Crigler-Najjar syndrome). In type 2 Crigler-Najjar syndrome, the function of the UGT bilirubin enzyme is only around 20 percent. Both of these conditions cause indirect bilirubin not to 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 mutation of the UGT1A1 gene occurs in both parents. Whereas if a gene mutation is inherited only from one parent, one can experience Gilbert's syndrome, a milder condition than Crigler-Najjar syndrome.

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Diagnosis of Crigler-Najjar Syndrome 
The doctor can expect the patient to suffer from Crigler-Najjar syndrome, if there are a number of symptoms previously described. But to be sure, the doctor can carry out a number of checks such as:

• Measurement of bilirubin levels
  Measurement of bilirubin levels is done by taking a patient's blood sample, to be examined in the laboratory. In type 1 Crigler-Najjar syndrome, bilirubin levels are in the range of 20-50 mg / dL. Whereas bilirubin levels in type 2 Crigler-Najjar syndrome range from 7-20 mg / dL.
• Examination of liver function
  In patients with Crigler-Najjar syndrome, generally liver enzyme levels examined during liver function testing are in the normal range. But in some cases, liver enzyme levels can increase due to intrahepatic cholestasis, which is the condition of the bile flow in the liver.

Crigler-Najjar Syndrome Treatment 
Treatment of Crigler-Najjar syndrome depends on the type suffered, as will be explained below:

1. Treatment of type 1 Crigler-Najjar syndrome The first step the doctor takes is prevention of kernicterus, which is in the following ways:
• Blue light phototherapy. Phototherapy is the act of shining on the whole body with blue light. Phototherapy must be done in the long term, so that bilirubin can be more easily removed through urine.
• Giving calcium phosphate. Calcium phosphate is useful for removing bilirubin.
• Exchange transfusion. Exchange transfusion is a procedure for replacing a baby's blood with fresh blood from a donor. This procedure can be done several times.
  Another method that is done is liver transplantation. In some cases, doctors will recommend liver transplantation to avoid complications.
2. Treatment of type 2 Crigler-Najjar syndrome Patients with type 2 Crigler-Najjar syndrome can improve on their own without having to be treated. However, doctors can give phenobarbital drugs to reduce bilirubin levels by 25 percent, in 2-3 weeks. In rare cases, some patients with type 2 Crigler-Najjar syndrome can also require exchange transfusion and phototherapy.

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