What is the Crigler-Najjar syndrome?
Crigler-Najjar syndrome is a rare genetic disorder characterized by an inability to properly convert and clear bilirubin from the body. Bilirubin is an orange-yellow bile pigment that is mainly a byproduct of the natural breakdown (degeneration) of old or worn out red blood cells (hemolysis).
What is the difference between Gilbert syndrome and Crigler-Najjar 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.
What is bilirubin PPT?
Bilirubin is the orange – yellow pigment derived from RBC, following formation in the Reticuloendothelial cells. Bilirubin is transported to and bio – transformed mainly in the liver and excreted in bile and urine.
How common is Crigler-Najjar syndrome?
Crigler-Najjar syndrome is a rare genetic condition that occurs when your liver can’t break down bilirubin (a substance created by red blood cells). Children with this condition have jaundice, where their skin appears yellow. Some symptoms are life-threatening and cause irreversible brain damage if left untreated.
What is bilirubin PDF?
•Bilirubin is the orange-yellow pigment derived from. senescent red blood cells. • It is a toxic waste product in the body. •It is extracted and biotransformed mainly in the liver, and.
How can you tell the difference between Crigler-Najjar type 1 and 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.
Which enzyme is deficient in Crigler-Najjar syndrome?
Glucuronidation makes bilirubin dissolvable in water so that it can be removed from the body. Mutations in the UGT1A1 gene that cause Crigler-Najjar syndrome result in reduced or absent function of the bilirubin-UGT enzyme.
What is the principle of bilirubin?
PRINCIPLE- This method for bilirubin estimation is based on Van Den Bergh reaction. In this reaction, bilirubin reacts with diazotized sulfanilic acid to produce azobilirubin which is purple in color. Intensity of color is directly proportional to the amount of bilirubin in the serum.
What is Malloy Evelyn method?
Determinations of direct bilirubin (conjugated bilirubin) level in serum are mainly used in diagnosis of liver functions. Measurement of direct bilirubin concentration is used as an aid in diagnosis of clinical conditions associated with hyperbilirubinemia.
How do you differentiate between conjugated and unconjugated hyperbilirubinemia?
A urine test positive for bilirubin indicates conjugated hyperbilirubinemia. Conjugated bilirubin is soluble in water; therefore, it can be excreted via urine but not unconjugated bilirubin due to water insolubility.
How many types of bilirubin are there?
It can also give levels of two different types of bilirubin: unconjugated and conjugated. Unconjugated (“indirect”) bilirubin. This is the bilirubin created from red blood cell breakdown. It travels in the blood to the liver.
What is the Jendrassik Grof method?
The DxC800 uses a timed-endpoint Diazo method (Jendrassik-Grof) to measure the concentration of total bilirubin in serum or plasma. In the reaction, bilirubin reacts with diazo reagent in the presence of caffeine, benzoate, and acetate as accelerators to form azobilirubin.
What is diazo reagent?
Ehrlich diazo reagent – two solutions, one of sodium nitrite, the other of acidified sulfanilic acid, used in bringing about diazotization. Synonym(s): diazo reagent. Ehrlich inner body – a round oxyphil body found in the red blood cell in case of hemocytolysis due to a specific blood poison.
What is the difference between bilirubin and conjugated 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.