Gastroenterology Flashcards
What is the mutation seen in alpha-1 antitrypsin deficiency?
PiZZ (most commonly associated with liver phenotype) and PiSS (SERPINA1)
How do you test for alpha-1 antitrypsin deficiency?
Phenotype not level
Which type of progressive familial intrahepatic cholestasis has high GGT?
PFIC 3
Which type of progressive familial intrahepatic cholestasis has increased risk of HCC?
PFIC 2
Features: Jaundice, butterfly vertebrae, pointed chin, bossing of forehead, peripheral pulmonary stenosis, bile duct paucity
Alagille disease
What does bile do?
Solubilization and transport of lipids in an
aqueous environment
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.
Treatment for Hepatitis B
Entacavir and Tenofovir
Treatment for Hepatitis C
Sofosbuvir and ledipasvir for 12 weeks
Gene responsible for Wilsons Disease and inheritance pattern?
ATP7B gene (pumps copper out of the liver into the intestine) and autosomal recessive
How do you investigate for Wilsons Disease?
Copper level and ceruloplasmin (copper carrying protein- should be low)
Urine copper (with penicillamine challenge)
Treatment for Wilsons Disease
Penicillamine
Zinc
Trientine
Can sclerosing cholangitis reoccur after transplant?
Yes
Which autoantibodies differentiate autoimmune hepatitis one from two?
One - anti-smooth muscle antibodies +/- ANA
Two - anti-LKM1and anti-LC1
Which gene mutation is linked to familial adenomatosis polyposis?
APC gene
What cancer is FAP associated with?
Hepatoblastoma
Gastric, thyroid, pancreatic, adrenal, rectal cancer
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
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
How do you test for exocrine pancreatic insufficiency?
Faecal elastase and chymotrypsin
What is the gene in Shwachman Diamond Syndrome?
SBDS gene
Triad:
- Pancreatic insufficiency
- Bone marrow dysfunction (neutropenia >anaemia >thrombocytopenia>pancytopenia)
- Skeletal Abnormalities
How is Pearson syndrome differentiated from Shwachman Diamond?
Pearsons has pancreatic fibrosis (not fatty tissue)
What is the condition associated with liver disease from long term TPN called?
IFALD (intestinal failure associated liver disease)
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
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
