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RACP Paediatrics Exam > Gastroenterology > Flashcards

Gastroenterology Flashcards

1
Q

What is the mutation seen in alpha-1 antitrypsin deficiency?

A

PiZZ (most commonly associated with liver phenotype) and PiSS (SERPINA1)

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2
Q

How do you test for alpha-1 antitrypsin deficiency?

A

Phenotype not level

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3
Q

Which type of progressive familial intrahepatic cholestasis has high GGT?

A

PFIC 3

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4
Q

Which type of progressive familial intrahepatic cholestasis has increased risk of HCC?

A

PFIC 2

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5
Q

Features: Jaundice, butterfly vertebrae, pointed chin, bossing of forehead, peripheral pulmonary stenosis, bile duct paucity

A

Alagille disease

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6
Q

What does bile do?

A

Solubilization and transport of lipids in an
aqueous environment

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7
Q

What type of formula is required for neonatal cholestasis?

A

Medium chain fatty acid based formula
Long chain fatty acids found in breast milk require bile/micelles for absorption.

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8
Q

Treatment for Hepatitis B

A

Entacavir and Tenofovir

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9
Q

Treatment for Hepatitis C

A

Sofosbuvir and ledipasvir for 12 weeks

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10
Q

Gene responsible for Wilsons Disease and inheritance pattern?

A

ATP7B gene (pumps copper out of the liver into the intestine) and autosomal recessive

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11
Q

How do you investigate for Wilsons Disease?

A

Copper level and ceruloplasmin (copper carrying protein- should be low)
Urine copper (with penicillamine challenge)

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12
Q

Treatment for Wilsons Disease

A

Penicillamine
Zinc
Trientine

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13
Q

Can sclerosing cholangitis reoccur after transplant?

A

Yes

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14
Q

Which autoantibodies differentiate autoimmune hepatitis one from two?

A

One - anti-smooth muscle antibodies +/- ANA
Two - anti-LKM1and anti-LC1

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15
Q

Which gene mutation is linked to familial adenomatosis polyposis?

A

APC gene

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16
Q

What cancer is FAP associated with?

A

Hepatoblastoma
Gastric, thyroid, pancreatic, adrenal, rectal cancer

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17
Q

Describe Gardiner Syndrome

A

Autosomal dominant
 Colonic polyps + extra-colonic manifestations
 Osteomas (skull, mandible, long bones), epidermal cysts, thyroid Ca, epidermal
cysts, pancreatic adenoCa, CHRPE (congenital hypertrophy of retinal
pigmented epithelium), desmoid tumours

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18
Q

Which disease is linked to distal intestinal obstruction syndrome?

A

Cystic fibrosis
- Cramping
- RLQ
- Palpable mass
- Reduced stool frequency
Tx:
- Hydrate
- Laxatives
- Bowel washout
- Prokinetics
- Rarely surgery

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19
Q

How do you test for exocrine pancreatic insufficiency?

A

Faecal elastase and chymotrypsin

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20
Q

What is the gene in Shwachman Diamond Syndrome?

A

SBDS gene
Triad:
- Pancreatic insufficiency
- Bone marrow dysfunction (neutropenia >anaemia >thrombocytopenia>pancytopenia)
- Skeletal Abnormalities

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21
Q

How is Pearson syndrome differentiated from Shwachman Diamond?

A

Pearsons has pancreatic fibrosis (not fatty tissue)

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22
Q

What is the condition associated with liver disease from long term TPN called?

A

IFALD (intestinal failure associated liver disease)

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23
Q

How do you manage children with IFALD?

A

Early addition of omega 3 fatty acids (SMOF - Soy, MCT, olive oil, fish oil)
Cycling of IVN
Use ursodeoxycholic acid
Advance enteral feeding
Good line care
Rotating antibiotic prophylaxis for SBBOG

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24
Q

Diagnostic criteria for HLH

A

 Molecular identification of HLH-associated gene OR
 5 out of the following 9 findings:
1. Fever >38.5 C
2. Splenomegaly
3. Peripheral cytopaenias (at least 2 cell lines)
4. Raised triglycerides
5. Low fibrinogen
6. Haemophagocytosis in either liver, spleen, lymph node, or bone marrow
7. Low/absent NK cell activity
8. Raised Ferritin (in the thousands)
9. Elevated CD25 (soluble IL-2 receptor)

25
Q

What is teduglutide?

A

GLP-2 Analogue produced in the ileum - found to reduce need for PN.
Acts to increase villous height

26
Q

Condition: SPINK1

A

Familial pancreatitis

27
Q

Condition: NOTCH2

A

Alagille

28
Q

Condition: Serpina1

A

Alpha 1 Anti-trypsin Deficiency

29
Q

Condition: STK11

A

Peutz jeghers Syndrome

30
Q

Condition: RET

A

Hirschsprungs

31
Q

Condition: ATP7B

A

Wilsons Disease

32
Q

Condition: JAG1

A

Alagille

33
Q

Condition: UGTP81

A

Gilbert Syndrome

34
Q

Condition: SBDS

A

Shwachman Diamond Syndrome

35
Q

What does sucrose break down into?

A

Glucose and fructose

36
Q

What does lactose break down to?

A

Glucose and galactose

37
Q

Which transporter is responsible for movement of glucose and galactose across the enterocyte?

A

SGLT1

38
Q

Which transporter moves fructose across the enterocyte?

A

GLUT2 (cotransported with glucose)
GLUT5

39
Q

What is a known gastrointestinal complication post cardiac Fontan procedure?

A

Protein losing enteropathy

40
Q

What is citrulline testing used for?

A

Biomarker of small bowel mass and function
- Amino acid produced by small bowel enterocytes

41
Q

Which genes are associated with pancreatitis?

A

SPINK1 (serine protease inhibitor kazal type 1)
PRSS1 (cationic trypsinogen gene)

42
Q

Side effects of tacrolimus

A

Nephotoxicity
HTN
Hypomagnesaemia
Neurotoxicity (headache, paraesthesias)
Arrhythmias

43
Q

Cyclosporin side effects

A

Gingival hypertrophy
Hirsutism
Renal impairment

44
Q

Gene associated with Crigler-Najjar Syndrome 1?

A

UGTA1A - autosomal recessive

45
Q

What treatment can be used for Crigler Najjar Syndrome 2

A

Phenobarbital

46
Q

How do you differentiate between Crigler Najjar Syndrome vs Gilberts Syndrome

A

Gilberts: Normal amounts of UGDT enzyme but reduced function
Crigler Najjar: Low amounts or absent amounts of UGDT enzyme

47
Q

Which IL is associated with Very early onset IBD?

A

IL-10

48
Q

Which bacteria can mimic acute appendicitis?

A

Yersinia

49
Q

What is the triad seen in immunedysregulation polyendocrinopathy enteropathy X-linked syndrome? What is the gene associated?

A

Early onset insulin dependent diabetes mellitus
Severe watery diarrhoea
Dermatitis

FOXP3 gene

50
Q

Which gene is associated with glucose galactose malabsorption?

A

SCL5A1

51
Q

Gene associated with hereditary fructose intolerance?

A

ALDOB

52
Q

Most reliable marker in stool of protein losing enteropathy?

A

Alpha 1 antitrypsin

53
Q

How do you test for fructose intolerance?

A

Serum aldolase B enzyme measurement

54
Q

What vitamin deficiency can a breast fed baby to a mother who is vegan have?

A

B12

55
Q

In alpha 1 antitrypsin deficiency with Pi null null phenotype what will they present with?

A

Severe emphysema and no liver involvement.

56
Q

Maralixibat used to reduce itch from bile acids in alagille works by?

A

Inhibiting bile acid transporter in the distal ileum.

57
Q

Which gene increases the likelihood of getting crohns disease?

A

NOD2

58
Q

In a child taking azathioprine for Crohns disease what are they at increased risk for if they have TPMT deficiency?

A

Pancreatitis
Bone marrow toxicity
Liver dysfunction
Infection
Need to monitor FBC, LFTS, Lipase and amylase

59
Q
A

RACP Paediatrics Exam (25 decks)

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