Genetics Flashcards
(22 cards)
What disorders have an mutated UDP - Glucuronyl Transferase (UGT)?
Breast Milk Juandice
Physiological Juandice of newborn
Crigler Najjar Syndrome
Which mutation causes Dubin Johnson Syndrome?
MRP2 –> can’t transfer conjugated bilirubin into blood so it backs up in blood
What type of inheritance is Crigler Najjar and what does it affect?
AR
Unconjugated hyperbilirubinemia
Affects metabolism of bilirubin –> increased unconjugated bilirubin
Which type of Crigler-Najar (1 or 2) is more severe?
Type 1 –> lethal cause you can’t conjugate bilirubin at all.
So you get a lot of bilirubin depositing in the brain –> kernicterus
What ezyme is completely defective in type 1 of Crigler Najjar Syndrome?
UGT1A1
(it converts unconjugated bilirubin to conjugated bilirubin)
What are the main symptoms of Crigler Najjar?
Neonatal juandice… kids die young :(
Kernicterus (bilirubin in brain)
What is the treatment for type 2 Crigler Najjar?
Phenobarbitol
What is Gilbert’s Syndrome?
Isolated unconjugated hyperbilirubinemia WITHOUT hepatitis/hemolysis
Instead of the entire UGT1A1 enzyme being defective like in Crigger Najar syndrome, what defect causes Gilbert’s syndrome?
Defect in the gene promotor for UGT1A1
Still leads to decreased UDP-glucoronyl transferase activity, therefore lower bilirubin uptake
Gilbert’s syndrome is very common, therefore this would tell us that it is mainly asymptomatic, but what are some symptoms?
Associated w/ fasting
Stress (like med student)
Alcohol intake
Patients w/ Gilbert’s syndrome don’t need any treatment. What is the only thing they have to lookout for?
They can’t take irinotecan meds.
What mutation causes Rotor’s Syndrome?
Mutations in OATP1B1 + OATP1B3
What substance is in excess with Dubin - Johnson and Rotor’s Syndrome?
Conjugated hyperbilirubinemia
Therefore, this means its not getting exreted properly and backs up in the blood.
What characterizes Dubin-Johnson syndrome?
Black liver
What characterizes Rotor’s syndrome?
Does not cause black liver
Patients usually asymptomatic and its rare
What syndrome has elevated urine coproporphyrin levels?
Rotor’s Syndrome bitch
When does breast milk jaundice appear?
When does breastfeeding juandice appear?
breast milk –> 2nd week of life
breast feeding –> 2-4 days of life
What causes Wilson’s Disease?
Free copper accumulates in tissues.
Due to a mutation in ATP7B transporter protein
What are the symptoms in Wilson’s disease?
Central Nervous System Problems
-parkinsons - like, flailing of arms (hemiballismus), dementia, cirrhosis
Kayser-Fleisher rings around eyes
In Wilson’s disease, since the copper is building up inside the liver, what can this eventually lead to?
Liver diseases like hepatitis, cirhosis, cancer
What is the treatment for Wilson’s disease?
A chelating agent that binds copper and removes it from the body (Penicillamine)
