13. Genetic Disorders of GI Flashcards

1
Q

When is Crigler-Najjar going to present?

A

In the neonatal stage of life.

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2
Q

What is kernicterus?

A

Bilirubin deposition in the brain.

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3
Q

What drug can be used to treat Crigler-Najjar, and how does it work?

A

Phenobarbital.

Only works for type II, but increases UDP glucuronyl transferase mRNA synthesis and activity.

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4
Q

What disease should we associate with jaundice s/p stress, fasting, or ethanol intake?

A

Gilbert syndrome.

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5
Q

What is the genetic cause of Gilbert syndrome?

A

Defect in the gene promoter for UGT1A1 (UDP-glucuronyl transferase 1A1).

Resulting in a decrease of UGT1A1 activity and decreasing bilirubin conjugation.

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6
Q

Is Gilbert’s syndrome conjugated or unconjugated bilirubinemia?

A

Unconjugated bilirubinemia.

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7
Q

What does a rifampin test come back positive for?

A

Either Gilbert’s syndrome or chronic liver disease.

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8
Q

Why might you need to avoid certain medications if you have Gilberts syndrome or Crigler-Najjar Type I?

A

Because UGT1A1 is nonfunctional, and is necessary to metabolize certain medications – like Ironotecan

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9
Q

Is Dubin-Johnson syndrome conjugated or unconjugated hyperbilirubinemia?

A

Conjugated hyperbilirubinemia.

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10
Q

What causes the black liver in Dubin-Johnson?

A

Impaired excretion of epinephrine metabolites.

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11
Q

What common medication can exacerbate the symptoms of Rotor syndrome?

A

Oral contraceptives – they compete for common transport proteins with conjugated bilirubin.

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12
Q

Dubin-Johnson and Rotor syndrome both show direct hyperbilirubinemia. What other lab value can allow you to distinguish between the two?

A

Urine coproporphyrin levels.

Coproporphyrin levels are elevated in Rotor syndrome but normal in Dubin-Johnson syndrome.

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13
Q

What does Coombs test test for?

A

Isoimmune hemolytic disease.

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14
Q

What disease should we consider from this lecture if the patient presents with CNS symptoms such as Parkinson -like symptoms, flailing, or dementia.

A

Wilson’s disease.

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15
Q

Wilson’s disease is a major risk factor for several liver diseases, including what important three presented in this lecture?

A

Hepatitis, cirrhosis, and hepatocellular carcinoma.

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