What Is Genetic Disorder - Congenital Hyperbilirubinemia
Congenital Hyperbilirubinemia
Congenital hyperbilirubinemia generally may present with jaundice.
There are four disorders which are associated with congenital hyperbilirubinemia. These include Dubin - Johnson syndrome, Gilbert Syndrome, Rotor syndrome and Crigler - Najjar syndrome type I and type II.
Dubin- Johnson syndrome is an conjugated hyperbilirubinemia.
Dubin - Johnson syndrome may present with right upper quadrant and epigastric pain. Dubin - Johnson syndrome is an autosomal recessive disorder which occurs due to mutation of the canalicular membrane carrier that lead to defect in the transport of bilirubin.
The jaundice / yellow discoloration is intermittent in nature.
Pathologically, the liver may appear black with mild cases of elevated liver enzymes.
Gilbert syndrome is an autosomal dominant condition. Patient may appear with mild jaundice and asymptomatic.
Gilbert syndrome is associated with defect in the UDPGT protein which usually involved in conjugating bilirubin for excretion by urine. Gilbert syndrome is associated with damage to the brain as a result of the build up of unconjugated bilirubin.
Rotor syndrome is associated with conjugated hyperbilirubinemia. Rotor syndrome is an autosomal recessive condition.
Patient may appear asymptomatic with series of intermittent jaundice. Rotor syndrome is associated with defect in the uptake of bilirubin and excretion of the bilirubin.
Type I Crigler - Najjar syndrome is an autosomal recessive condition which lead to the impairment of the activity of the UDPGT. Type I Crigler Najjar Syndrome is associated with unconjugated hyperbilirubinemia.
The symptoms and signs of type I Crigler - Najjar syndrome may include kernicterus and early onset of jaundice. Fatality is common.
The treatment for type I Crigler - Najjar syndrome may include plasmapheresis and phototherapy.
Type 2 Crigler - Najjar Syndrome is an autosomal dominant condition with variable penetrance that lead to defect in the activity of the UDPGT and associated with unconjugated hyperbilirubinemia. Patient may appear with jaundice and rarely present with kernicterus.
Type 2 Crigler - Najjar Syndrome is a non fatal condition and treated with phenobarbital.
Congenital hyperbilirubinemia generally may present with jaundice.
There are four disorders which are associated with congenital hyperbilirubinemia. These include Dubin - Johnson syndrome, Gilbert Syndrome, Rotor syndrome and Crigler - Najjar syndrome type I and type II.
Dubin- Johnson syndrome is an conjugated hyperbilirubinemia.
Dubin - Johnson syndrome may present with right upper quadrant and epigastric pain. Dubin - Johnson syndrome is an autosomal recessive disorder which occurs due to mutation of the canalicular membrane carrier that lead to defect in the transport of bilirubin.
The jaundice / yellow discoloration is intermittent in nature.
Pathologically, the liver may appear black with mild cases of elevated liver enzymes.
Gilbert syndrome is an autosomal dominant condition. Patient may appear with mild jaundice and asymptomatic.
Gilbert syndrome is associated with defect in the UDPGT protein which usually involved in conjugating bilirubin for excretion by urine. Gilbert syndrome is associated with damage to the brain as a result of the build up of unconjugated bilirubin.
Rotor syndrome is associated with conjugated hyperbilirubinemia. Rotor syndrome is an autosomal recessive condition.
Patient may appear asymptomatic with series of intermittent jaundice. Rotor syndrome is associated with defect in the uptake of bilirubin and excretion of the bilirubin.
Type I Crigler - Najjar syndrome is an autosomal recessive condition which lead to the impairment of the activity of the UDPGT. Type I Crigler Najjar Syndrome is associated with unconjugated hyperbilirubinemia.
The symptoms and signs of type I Crigler - Najjar syndrome may include kernicterus and early onset of jaundice. Fatality is common.
The treatment for type I Crigler - Najjar syndrome may include plasmapheresis and phototherapy.
Type 2 Crigler - Najjar Syndrome is an autosomal dominant condition with variable penetrance that lead to defect in the activity of the UDPGT and associated with unconjugated hyperbilirubinemia. Patient may appear with jaundice and rarely present with kernicterus.
Type 2 Crigler - Najjar Syndrome is a non fatal condition and treated with phenobarbital.
