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GI Final > 9 Genetic Disorders of the GI > Flashcards

9 Genetic Disorders of the GI Flashcards

1
Q

What is Crigler Najjar due to

A

Hereditary unconjugated hyperbilirubinemia

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2
Q

Crigler Najar is caused by what enzyme

A

Absent (Type 1) or low levels (Type 2 ) of hepatic bilirubin UGT (UGT1A1)

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3
Q

When does Crigler Najjar present

A

Early in life

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4
Q

Why is jaundice seen in premies

A

They have lower levels of UGT1A1

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5
Q

What does Crigler Najar result in

A

Brain damage early in infancy

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6
Q

Cancer drug (Ironotecan) gets solubilized by what

A

UGT1A1 (it attaches a glucose)

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7
Q

What are the symptoms of Crigler Najjar

A
  • neonatal jaundice
  • sepsis
  • hypotonia
  • kernicterus (causes deafness and poor mental progression)

PE

  • jaundice
  • oculomotor palsy
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8
Q

What are the treatments for Crigler Najjar

A
  • plasmapharesis
  • phototherapy
  • phenobarbital (UGT1A1 inducer)

the inducer only works in Type 2

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9
Q

What is kernicterus

A
  • bilirubin deposition in the brain
  • poor development/mental function

Severe cases die within a few years

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10
Q

What is Gilbert syndrome

A

Hereditary unconjugated hyperbilirubinemia

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11
Q

What causes Gilbert syndrome

A

Defect in promotor for UGT1A1

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12
Q

What lab results do we find with Gilbert’s syndrome

A

Mild decrease in UDP glucuronyl transferase activity

Mild decrease in bilirubin uptake

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13
Q

What symptoms does Gilbert’s syndrome present with

A

Largely asymptomatic but:

  • occasional and recurrent jaundice
  • associated with fasting
  • stress
  • EtOH intake
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14
Q

How do you diagnose Gilbert’s syndrome

A

Isolated uncojugated hyperbilirubinemia without hepatitis or hemolysis

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15
Q

What is the treatment for Gilbert’s syndrome

A

None

Prognosis, prevention, and complications

Avoid Irinotecan

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16
Q

Black liver

A

Dubin-Johnson syndrome

17
Q

What are the symptoms of Dubin-Johnson/Rotor’s syndrome

A

Hereditary conjugated hyperbilirubinemia

Causes deceased hepatic excretion of conjugated bilirubin

18
Q

Why is DJS liver black

A

Impaired excretion of epinephrine metabolites (MRP2 deficiency)

19
Q

What are the PE findings of DJS and Rotor’s syndrome

A

May become jaundiced or icteric during pregnancy or with oral contraceptives

20
Q

DJS and rotor’s syndrome may have what lab values

A

Direct hyperbilirubinemia and increased total bilirubin in DJS

21
Q

How can you distinguish DJS and Rotor

A

Elevated urine coproporphyrin levels in Rotors

Normal in DJS

22
Q

What causes the symptoms of Wilson’s disease

A

Free copper accumulation in many tissues

23
Q

What causes Wilson’s disease

A

ATP7B

24
Q

What does ATP7B do

A

Uses ATP to pump copper into bile and plasma

Defective in Wilson’s disease

25
Q

What are the symptoms of Wilson’s disease

A
  • parkinson’s like symptoms
  • hemiballismus - flailing, ballistic, undesired movements of the limbs
  • dementia
26
Q

What do you find with Wilson’s disease on physical exam

A

Cirrhosis and corneal deposits (Kayser Fleischer rings)

They are rarely seen outside of Wilson’s

27
Q

What are the labs that are found with Wilson’s

A
  • decreased total serum copper
  • increased non-ceruloplasmin bound copper
  • increased urine/serum free copper
  • hemolytic anemia
28
Q

What is the medical treatment for Wilson’s disease

A

Ammonium tetrathiomolybdate —>urinary excretion of copper

Penicillamine —> copper chelator

Tientine —> copper chelator

Zinc —> competes with copper for absorption in the gut via ATPB7

29
Q

What are the surgical treatments of Wilson’s disease

A

Consider liver transplantation as clinical condition deteriorates

30
Q

Wilson’s disease is also at risk foir

A
  • hepatitis
  • cirrhosis
  • hepatocellular carcinoma
  • Fanconi’s disease

GI Final (12 decks)

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