How can you tell the difference between Gilbert syndrome and Crigler Najjar?
In the case of Gilbert syndrome two bases are inserted into the promoter of the gene. In Crigler-Najjar syndrome type I and II mutations lead to the exchange of amino acids, changes of the reading frame or to stop codons.
What is the incidence of Gilbert’s syndrome?
It is important for these healthcare workers to know that the syndrome is benign. There is no specific treatment required for patients with Gilbert syndrome as they are usually asymptomatic.
Is Crigler Najjar fatal?
Crigler-Najjar syndrome (CNS), named for the two physicians who first described the condition in 1952, John Crigler and Victor Najjar, is a rare, life-threatening inherited condition that affects the liver. CNS is characterized by a high level of a toxic substance called bilirubin in the blood (hyperbilirubinemia).
What is Crigler Najjar type 1?
Crigler Najjar syndrome , type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly.
What is the difference between Crigler-Najjar syndrome type 1 and type 2?
Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood due to kernicterus, although with proper treatment, they may survive longer. Type 2 (CN2) is less severe.
What causes Crigler-Najjar syndrome?
Crigler-Najjar syndrome is caused by an alteration (mutation) in the UGT1A1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent.
How common is Crigler-Najjar syndrome?
Crigler-Najjar syndrome affects males and females in equal numbers. The incidence is estimated to be 1 in 750,000-1,000,000 people in the general population.
What is Crigler-Najjar syndrome type 2?
Standard Therapies. Treatment is directed toward lowering the level of unconjugated bilirubin in the blood. Early treatment is imperative in Crigler-Najjar syndrome type I to prevent the development of kernicterus during the first few months of life.
What is Crigler-Najjar disease?
Crigler-Najjar syndrome is a rare autosomal recessive disorder of bilirubin conjugation characterized by severe unconjugated hyperbilirubinemia that can result in bilirubin-induced neurologic dysfunction (BIND).