Crigler-Najjar syndrome (Type I)

What is Crigler-Najjar syndrome (Type I)?

It is a rare genetic syndrome that leads to the build up of high levels of unconjugated bilirubin. This form of bilirubin is a toxic substance and causes most serious symptoms of this syndrome.

There are two types of the syndrome: Type 1 is the severe form of the diseases, Type 2 is less severe and the symptoms are much milder.

What gene changes cause Crigler-Najjar syndrome (Type I)?

Mutations in the UGT1A1 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Crigler-Najjar syndrome (Type I)?

The buildup of toxic unconjugated bilirubin in the blood can trigger kernicterus. This is a severe symptom in individuals with the Type 1 form of the syndrome. Kernicterus is a form of brain damage when the unconjugated bilirubin damages the nerves of the brain leading also to lethargy and hypotonia, as well as involuntary body movements, hearing issues and intellectual disability.

This buildup also causes jaundice, which is the yellowing of the skin and whites of the eyes.

How does someone get tested for Crigler-Najjar syndrome (Type I)?

The initial diagnosis of Crigler-Najjar can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.

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