How can you tell the difference between Dubin-Johnson and Rotor syndrome?
Since Rotor syndrome is clinically similar to Dubin-Johnson syndrome (DJS), it is imperative to distinguish between these two conditions; the absence of dark melanin-like pigments on liver biopsy distinguishes Rotor syndrome from DJS. The outcomes for patients with Rotor syndrome are excellent.
What happens Rotor syndrome?
Description. Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down.
What causes Rotor syndrome?
Rotor syndrome is caused by having genetic changes in both the SLCO1B1 and SLCO1B3 genes and is inherited in an autosomal recessive manner.
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?
Causes. Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body.
What is the difference between Crigler-Najjar syndrome and Gilbert’s syndrome?
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.
Is bilirubin encephalopathy and kernicterus the same?
Bilirubin encephalopathy is a rare neurological condition that occurs in some newborns with severe jaundice. Kernicterus is a condition where very high bilirubin levels in the blood are deposited in the brain tissue causing irreversible damage to the brain.
What’s the difference between conjugated bilirubin and direct bilirubin?
Some bilirubin is bound to a certain protein (albumin) in the blood. This type of bilirubin is called unconjugated, or indirect, bilirubin. In the liver, bilirubin is changed into a form that your body can get rid of. This is called conjugated bilirubin or direct bilirubin.