GIT pathophysiology

Question 1

What deficiency causes acrodermatitis enteropathica?

Answer 1

impaired GIT zinc absorption

Question 2

How is acrodermatitis enteropathica inherited?

Answer 2

AR

Question 3

What are 4 features of acrodermatitis enteropathica?

Answer 3

skin rash (perioral)
enteritis (chronic diarrhea)
recurrent infections
Alopecia

Question 4

What are the two physiological anomalies leading to achalasia?

Answer 4

Aperistalsis + imapired LOS relaxation with swallow

Question 5

How does ranitidine work?

Answer 5

H2 antagonist

Question 6

What are two severe complications of Nissen Fundoplication?

Answer 6

Obstructive dysphagia (too tight)
Dumping

Question 7

What causes Zolliger-Ellison syndrome?

Answer 7

gastrin producing tumour of the exocrine pancreas

Question 8

Pancreatic insufficiency + short stature + neutropenia are indicative of what syndrome?

Answer 8

Schwachman-Diamond syndrome

Question 9

How is congenital chloride diarrhoea inherited?

Answer 9

AR

Question 10

Severe watery diarrhea at birth + PHx polyhydramnios in indicative of what syndrome?

Answer 10

Congenital chloride diarrhoea

Question 11

What age is typical for intussusception

Answer 11

6-9mths

Question 12

Which patients are at risk for Giardiasis infection (5)?

Answer 12

CF
Chronic pancreatitis
Achlorhydia
Agammaglobulinemia
Hypogammaglobulinemia

Question 13

How is Alagille syndrome inherited?

Answer 13

AD

Question 14

What genetic mutation causes Alagille syndrome?

Answer 14

JAG1 gene

Question 15

What are the main features of Alagille syndrome? (3)

Answer 15

Intra-hepatic biliary hypoplasia
Peripheral pulmonary stenosis
Characteristic facies

Question 16

Which two main organ systems are affected in Alpha-1 antitrypsin deficiency?

Answer 16

liver + lung

Question 17

Which penotype in Alpha-1-antitrypsin deficiency is most commonly associated with liver disease?

Answer 17

PiZZ

Question 18

What causes liver disease in alpha-1 antitrypsin deficiency?

Answer 18

Alpha-1 antitrypsin molecule becomes trapped in ER

Question 19

How is Wilson’s disease inherited?

Answer 19

AR

Question 20

What causes disease in Wilsons disease?

Answer 20

Defect in copper metabolism leads to build up in tissues (liver, basal ganglia, cornea)

Question 21

What is the most common type of TOF/OA?

Answer 21

EA + distal distula (82%)