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GIGU > Genetics of GI Disorders > Flashcards

Genetics of GI Disorders Flashcards

1
Q

What are the genetic disorders related to heme metabolism?

A
  1. Crigler - Najjar syndrome
  2. Gilbert’s Syndrome
  3. Dubin - Johnson Syndrome
  4. Rotor Syndrome
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2
Q

How is Crigler - Najjar syndrome inherited?

A

Autosomal Recessive

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3
Q

Crigler - Najjar syndrome affects metabolism of _____

A

Bilirubin

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4
Q

When in life does Crigler - Najjar syndrome present?

A

Very early in life

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5
Q

Describe the 2 types of Crigler - Najjar syndromes

A

Type 1: mutation that causes absent UGT1A1 enzyme

Type 2: mutation that causes defective or less active UGT1A1 enzyme

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6
Q

Crigler - Najjar syndrome is detected because the infants have high levels of what?

A

Unconjugated hyperbilirubinemia

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7
Q

How is heme supposed to break down?

A 
Heme
Biliverdin
Bilirubin
Bilirubin glucuronides 
= Excreted
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8
Q

Where in the pathway for heme metabolism is the enzyme UGT1A1 important?

A

Taking bilirubin to bilirubin glucuronides so they can be excreted - thus a mutation in that enzyme causes crazy high levels of bilirubin

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9
Q

What are the symptoms/signs of Crigler - Najjar syndrome?

A

Severe Jaundice and brain dysfunction
Kernicterus - deafness and poor mental progession
Hypotonia

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10
Q

Arias Syndrome

A

Type 2 Crigler - Najjar syndrome (less severe than Type 1)

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11
Q

How does one get Gilbert’s syndrome?

A

Hereditary

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12
Q

Gilbert’s syndrome is characterized by what?

A

Unconjugated hyperbilirubinemia

- Decrease in bilirubin uptake (mild)

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13
Q

Gilbert’s syndrome is associated with a defect in?

A

UGT1A1 gene promotor

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14
Q

What are the symptoms of Gilbert’s Syndrome?

A

LARGELY ASYMPTOMATIC

- occasional recurrent mild jaundice that can be associated with fasting, stress and alcohol

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15
Q

How do you test for Gilbert’s syndrome?

A

Rifampin test:

  • Fast 12-24 hours
  • Administer Rifampin
  • Bilirubin levels greater than 1.9
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16
Q

What is the treatment for Gilbert’s syndrome?

A

NONE needed

17
Q

What 2 syndromes are characterized by increased levels of CONJUGATED bilirubin?

A

Dubin - Johnson syndrome

Rotor’s Syndrome

18
Q

Dubin-Johnson syndrome has mutations in what and what does it normally do?

A

MRP2 - transports molecules across extra/intracellular membranes

19
Q

What is the main physical exam finding with Dubin-Johnson syndrome?

A

BLACK LIVER

20
Q

Why is the liver black in Dubin-johnson syndrome?

A

Impaired excretion of epinephrine metabolites

21
Q

How is Dubin-Johnson syndrome inherited?

A

Autosomal recessive

22
Q

What are the urine coproporphyrin levels with Dubin-Johnson syndrome?

A

Normal

23
Q

Dubin-Johnson syndrome has increased _______ levels due to impaired hepatic secretion of _____

A

Conjugated bilirubin

Bilirubin

24
Q

Rotor’s syndrome has mutations in what and what does it normally do?

A

OATP1B1 and OATP1B3 - facilitate liver uptake of drugs

25
Q

What are the main symptoms of Rotor’s syndrome?

A

ASYMPTOMATIC - NO black liver

26
Q

What are the urine coproporphyrin levels with Rotor’s syndrome?

A

Elevated

27
Q

Rotor’s Syndrome has increased ______ levels due to impaired secretion/storage of _____

A

Conjugated bilirubin

Bilirubin

28
Q

Which is more severe, Dubin-Johnson syndrome or Rotor’s syndrome?

A

Dubin-Johnson syndrome

29
Q

What gene is mutated for Wilson’s Disease?

A

ATP7B

30
Q

Overall sign of Wilson’s Disease?

A

Increased free copper accumulation in many tissues

31
Q

Why is there an increase in free copper due to Wilson’s Disease?

A

ATP7B gene for wilson disease protein does not pump copper into bile or bind it to ceruloplasmin to go into blood

32
Q

How is Wilson’s Disease inherited?

A

Autosomal recessive

33
Q

Free copper generates _____ that will ____ tissues

A

Free radicals

Damage tissues

34
Q

What type of protein is wilson’s disease protein?

A

Transmembrane P-type ATPase that uses ATP -> ADP to pump copper into bile and plasma

35
Q

What are the symptoms for Wilson’s Disease?

A

Parkinson-like symptoms
Hemiballismus - flailing undesired movement of limbs
Dementia
Cirrhosis
Kayser-Fleischer rings around iris of eye

36
Q

Lab signs of Wilson’s Disease?

A
  • Decreased total serum copper due to decreased ceruloplasmin
  • Increased urine copper
  • Increased non-bound copper
  • Liver biopsy shows increased hepatic copper
37
Q

Wilson’s disease is a risk factor for many liver diseases. List some.

A

Cirrhosis
Hepatitis
Hepatocellular carcinoma
Fanconi’s disease of proximal tubules

38
Q

What disease characterizes too much iron in the body?

A

Hemochromatosis

GIGU (29 decks)

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