Gastroenterology Flashcards by Tayla Potter

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

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

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How do you test for alpha-1 antitrypsin deficiency?

Phenotype not level

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Which type of progressive familial intrahepatic cholestasis has high GGT?

PFIC 3

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

PFIC 2

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

Alagille disease

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What does bile do?

Solubilization and transport of lipids in an
aqueous environment

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What type of formula is required for neonatal cholestasis?

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

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Treatment for Hepatitis B

Entacavir and Tenofovir

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Treatment for Hepatitis C

Sofosbuvir and ledipasvir for 12 weeks

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Gene responsible for Wilsons Disease and inheritance pattern?

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

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How do you investigate for Wilsons Disease?

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

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Treatment for Wilsons Disease

Penicillamine
Zinc
Trientine

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Can sclerosing cholangitis reoccur after transplant?

Yes

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Which autoantibodies differentiate autoimmune hepatitis one from two?

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

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Which gene mutation is linked to familial adenomatosis polyposis?

APC gene

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What cancer is FAP associated with?

Hepatoblastoma
Gastric, thyroid, pancreatic, adrenal, rectal cancer

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Describe Gardiner Syndrome

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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Which disease is linked to distal intestinal obstruction syndrome?

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

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How do you test for exocrine pancreatic insufficiency?

Faecal elastase and chymotrypsin

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What is the gene in Shwachman Diamond Syndrome?

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

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How is Pearson syndrome differentiated from Shwachman Diamond?

Pearsons has pancreatic fibrosis (not fatty tissue)

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

IFALD (intestinal failure associated liver disease)

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How do you manage children with IFALD?

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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Diagnostic criteria for HLH

 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)

What is teduglutide?

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

Condition: SPINK1

Familial pancreatitis

Condition: NOTCH2

Alagille

Condition: Serpina1

Alpha 1 Anti-trypsin Deficiency

Condition: STK11

Peutz jeghers Syndrome

Condition: RET

Hirschsprungs

Condition: ATP7B

Wilsons Disease

Condition: JAG1

Alagille

Condition: UGTP81

Gilbert Syndrome

Condition: SBDS

Shwachman Diamond Syndrome

What does sucrose break down into?

Glucose and fructose

What does lactose break down to?

Glucose and galactose

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

SGLT1

Which transporter moves fructose across the enterocyte?

GLUT2 (cotransported with glucose) GLUT5

What is a known gastrointestinal complication post cardiac Fontan procedure?

Protein losing enteropathy

What is citrulline testing used for?

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

Which genes are associated with pancreatitis?

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

Side effects of tacrolimus

Nephotoxicity HTN Hypomagnesaemia Neurotoxicity (headache, paraesthesias) Arrhythmias

Cyclosporin side effects

Gingival hypertrophy Hirsutism Renal impairment

Gene associated with Crigler-Najjar Syndrome 1?

UGTA1A - autosomal recessive

What treatment can be used for Crigler Najjar Syndrome 2

Phenobarbital

How do you differentiate between Crigler Najjar Syndrome vs Gilberts Syndrome

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

Which IL is associated with Very early onset IBD?

IL-10

Which bacteria can mimic acute appendicitis?

Yersinia

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

Early onset insulin dependent diabetes mellitus Severe watery diarrhoea Dermatitis FOXP3 gene

Which gene is associated with glucose galactose malabsorption?

SCL5A1

Gene associated with hereditary fructose intolerance?

ALDOB

Most reliable marker in stool of protein losing enteropathy?

Alpha 1 antitrypsin

How do you test for fructose intolerance?

Serum aldolase B enzyme measurement

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

B12

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

Severe emphysema and no liver involvement.

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

Inhibiting bile acid transporter in the distal ileum.

Which gene increases the likelihood of getting crohns disease?

NOD2

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

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