- Main types and symptoms
- Crigler-Najjar syndrome type 1
- Crigler-Najjar syndrome type 2
- How to confirm the diagnosis
- How the treatment is done
Crigler-Najjar syndrome is a genetic disease of the liver that causes the accumulation of bilirubin in the body, due to changes in the enzyme that transforms this substance for its elimination through bile.
This change can have different degrees and form of symptom manifestation, so the syndrome can be type 1, more severe, or type 2, lighter and easier to treat.
Thus, bilirubin that cannot be eliminated and accumulates in the body causes jaundice, causing yellowish skin and eyes, and risk of liver damage or brain intoxication.
Main types and symptoms
Crigler-Najjar syndrome can be classified into 2 types, which differ by the degree of inactivity of the liver enzyme that transforms bilirubin, called glucoronyl transferase, and also by symptoms and treatment.
Crigler-Najjar syndrome type 1
It is the most serious type, as there is a total absence of liver activity for the transformation of bilirubin, which is accumulated in excess in the blood and causes symptoms even at birth.
- Symptoms: severe jaundice since birth, one of the causes of newborn hyperbilirubinemia, and there is a risk of liver damage and brain poisoning called kernicterus, in which there is disorientation, drowsiness, agitation, coma and risk of death.
Learn more about what causes it and how to cure the types of hyperbilirubinemia of the newborn.
Crigler-Najjar syndrome type 2
In this case, the enzyme that transforms bilirubin is very low, although still present, and although it is also severe, jaundice is less intense, and there are fewer symptoms and complications than type 1 syndrome. brain is also smaller, which can happen in episodes of elevated bilirubin.
- Symptoms: jaundice of varying intensity, which can be mild to severe, and can appear in other years throughout life. It can also be caused after some stress in the body, such as infection or dehydration, for example.
Despite the risks to the child's health and life caused by the types of this syndrome, it is possible to reduce the number and severity of the manifestations with the treatment, with phototherapy, or even liver transplantation.
How to confirm the diagnosis
The diagnosis of Crigler-Najjar syndrome is made by a pediatrician, gastro or hepatologist, based on physical examination and blood tests, which demonstrate an increase in bilirubin levels, in addition to the assessment of liver function, with AST, ALT and albumin, for example.
The diagnosis is confirmed by DNA tests or even a liver biopsy, which are able to differentiate the type of syndrome.
How the treatment is done
The main treatment to decrease bilirubin levels in the body, in Crigler-Najjar syndrome type 1, is phototherapy with blue light for at least 12 hours a day, which can vary depending on the needs of each person.
Phototherapy is effective because it breaks down and transforms bilirubin so that it can reach bile and be eliminated by the body. This treatment may also be accompanied by blood transfusions or the use of bilirubin chelating drugs, such as cholestyramine and calcium phosphate, to improve its effectiveness, in some cases. Learn more about the indications and how phototherapy works.
Despite this, as the child grows, the body becomes resistant to treatment, as the skin becomes more resistant, requiring more and more hours of phototherapy.
For the treatment of Crigler-Najjar syndrome type 2, phototherapy is performed in the first days of life or, at other ages, only as a complementary form, as this type of disease has a good response to treatment with the drug Fenobarbital, which may increase the activity of the liver enzyme that eliminates bilirubin through bile.
However, the definitive treatment for any of the types of the syndrome is only achieved with liver transplantation, in which it is necessary to find a compatible donor and have physical conditions for the surgery. Know when it is indicated and how is the recovery from liver transplantation.
