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FRACP Paediatrics > Gastroenterology > Flashcards

Gastroenterology Flashcards

1
Q

What is the genetic basis of Menke Kinky Hair disease?

A
  • X-linked recessive gene on chr. Xq13.

- Causes defect in copper transport.

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2
Q

What are the clinical features of Menke Kinky Hair disease?

A
  • Progressive neurodegeneration and severe mental retardation.
  • Seizures, hypotonia, feeding difficulties, optic atrophy.
  • Colourless hair, kinky and fragile.
  • Chubby red cheeks.
  • Death <3 years.
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3
Q

What are investigations for Mankes Kinky Hair diasease?

A
  • Hair shaft examination: trichorrhexis nodosa (fractures along hair shaft), pili torti (twisted hair), monilethrix (brittle hair)
  • Serum copper (reduced), caeruloplasmin (reduced).
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4
Q

How is cows milk protein allergy related to GOR?

A
  • Allergy causes inflammation and consequent dysmotility.
  • GOR attributable to CMPA in 16-42%.
  • Study 41% had CMPA and responded to MC elimination (with challenge).
  • Associated diarrhoea and atopic dermatitis.
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5
Q

What is the most important pathophysiological basis of gastroesophageal reflux?

A
  • Transient relaxation of the lower oesophageal sphincter.
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6
Q

What is the pathogenesis of eosiniphilic oesophagitis?

A
  • T-helper type 2 cytoine mediated pathway activation.

- Leads to production of eotaxin 3 (powerful eosinophil chemo-attractant) by oesophageal endothelium.

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7
Q

How do PPI’s work to improve eosinophilic oesophagitis?

A
  • PPI inhibition of eotaxin 3 secretion.
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8
Q

What are the expected insensible water losses in a 26w 750g infant?

A
  • Very immature prem infants (<1kg) may lose 2-3ml/kg/h due to immature skin, lack of subcutaneous tissue and large exposed surface area.
  • Larger prem infants (2-2.5kg) have insensible water loss of 0.6-0.7ml/kg/h.
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9
Q

What are the features of Cowden Syndrome?

A
  • Autosomal dominant.
  • 80% have PTEN mutation.
  • Facial trichilemmomas (often perioral), acral keratosis, papillomatous papules.
  • GI hamartomas and oesophageal glycogenic acanthosis are minor criteria only but are present in 80%.
  • Other associtions - breast fibroadenomas, breast cancers, goitres and thy roid cancers.
  • Macrocephaly, genitourinary cancers including renal cell carcinoma and intellectual disability.
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10
Q

Features of Hepatitis A infection?

A
  • Highly contagious.
  • Transmitted via faecal-oral route.
  • Typical incubation period 3/52.
  • Symptoms vary from anicteric with gastroenteritis symptoms to high fever and jaundice lasting up to 2 weeks.
  • Lymphadenopathy and splenomegaly may be present.
  • Diagnosis: Hepatitis A IgM positive - stool and blood PCR are available.
  • Complications are uncommon but include pancreatitis, acute liver failure and prolonged cholestatic syndrome with fat malabsorption lasting many months.
  • Treatment supportive and prognosis generally excellent.
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11
Q

Features of Non-alcoholic statohepatitis?

A
  • Common cause of deranged LFTs in obese children.
  • USS and LFTs assist in diagnosis though neither is specific or sensitive - differentials dhould be excluded.
  • Investigate for manifestations of metabolic syndrome.
  • Mainstay of treatment is diet and lifestyle modification.
  • Metformin and Vit E being used with mixed results.
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12
Q

Features of Type 1 autoimmune hepatitis?

A
  • Fulminant hepatitis affects around 3% with type 1 autoimmune hepatitis.
  • Charachterised by hepatic encephalopathy, coagulopathy and jaundice.
  • Teenagers affected.
  • ANA and anti-SMA positive.
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13
Q

At what level is a swallowed foreign body most likely to become impacted?

A
  • Oesophagus at the level of cricoid.
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14
Q

What is the pathogenesis of FPIES?

A
  • Food allergens cause local inflammation, increased intestinal permeability and fluid shifts.
  • T cell mediated.
  • Increased TNFa and decreased TNFb.
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15
Q

In FPIES which food is least likely to show resolution by 3y?

A
  • Rice (40%)
  • Cows milk (60-90%)
  • Soy (25-90%
  • Vegetables (67%)
  • Oats (66%)
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16
Q

What carbohydrates are transported by intestinal sodium-glucose transporter 1 (SGLT-1)?

A
  • Glucose and galactose.
17
Q

What are the required kCal/gram of glucose, protein and lipid for a pareneterally fed neonate?

A
  • Glucose and protein 4 Kcal/gram.

- Lipid 9 Kcal/gram.

18
Q

What are the criteria for osmotic diarrhoea?

A
  • Na <70mEq/L
  • Osmolality >(Na+K)x2
  • pH <5
  • Reducing substances.
  • Volume >200ml/d.
  • Ceases when oral intake stops.
19
Q

What are the criteria for secretory diarrhoea?

A
  • Na >70mEq/L
  • Osmolality = (Na+K)x2
  • pH >6
  • No reducing substances.
  • Volume >200ml/d
20
Q

What do fatty acid crystals in stool indicate?

A
  • Absorptive fat malabsorption.
21
Q

What do fat globules in stool indicate?

A
  • Digestive fat malabsorption.
22
Q

What changes do you see on blood test in bacterial small bowel overgrowth?

A
  • Decreased B12 - increased bacterial consumption.

- Increased folate - enhanced folate synthesis.

23
Q

How is fructose absorbed?

A
  • Often bound to glucose to form disaccharide sucrose.
  • Free fructose absorbed directly by the intestine.
  • When fructose consumed in the form of sucrose it is digested and absorbed as free fructose.
  • Sucrose comes in contact with the membrane of the small intestine and the enzyme sucrase catalyses cleavage to yield 1 glucose and 1 fructose.
  • Fructose absorption occurs on the mucosal membrane via facilitated transport involving GLUT5 (Na+ independent facilitated diffusion) and leaves via GLUT2.
24
Q

Which immunological mechanism is the major cause of destruction of small intestinal villous architecture in coeliac disease?

A
  • Gluten peptides (gliadin), penetrate between the intestinal epithelial cells.
  • In the lamina propria they are deamidated by free tissue transgutaminase.
  • This is taken up by macrophages and presents on HLA-DQ2 or DQ8 which activates cytotoxic T cells which damage the epithelial cells.
  • T helper cells are recruited via IL15 and these activate B cells to produce anti-tTG and EMA antibodies.
25
Q

What are features of intestinal lymphangiectasia?

A
  • Protein losing enteropathy and steatorrhoea.
  • Primary or secondary to disease causing obstruction to intestinal lymphatic drainage.
  • Associated with Noonans and Turners.
  • Loss of protein-rich lymph containing albumin, globulins and lymphocytes.
  • Leads to faecal fat loss and hypoproteinaemia (without proteinuria or hepatic dysfunction), hypoalbuminaemia and lymphopenia.
26
Q

What are the most common causes of acute pancreatitis in childhood?

A
  • Blunt abdominal trauma.
  • Multisystem disease.
  • Biliary stones.
  • Drug toxicity.
27
Q

What are features of Meckel divericulum?

A
  • Remnant of embryonic yolk sac or vitelline duct.
  • Seperates from the intestine at 6w gestation.
  • If this fails a 3-6cm outpouching of the ileum forms - this is lined with stomach epithelium.
  • First decade but usually first 2y, painless rectal bleeding (red current jelly or brick coloured).
  • Associated with anaemia.
  • Can be a lead point for an intussusception.
  • Diagnosis with 99m Technetium pertechnetate scan.
28
Q

What are symptoms of hepatic veno-occlusive disease?

A
  • Jaundice, weight gain, painful hepatomegaly, ascites.
  • Acute GVHD typically occurs later (14-21 days post SCT).
  • In acute GVHD, ALT rises in absence of elevated bilirubin, ALP and GGT (mimicking hepatitis).
29
Q

What are the Seattle Diagnostic criteria of hepatic veno-occlusive disease?

A
  • Timing post SCT.
  • High bilirubin.
  • Hepatomegaly.
  • RUQ pain.
  • Ascites/weight gain.
  • Diagnosis rests on exclusion of GVHD, congestive cardiomyopathy, constrictive cardiomyopathy and Budd Chiari syndrome.
30
Q

What causes superior mesenteric artery syndrome?

A
  • Compression of the 3rd duodenal segment by the SMA against the aorta.
  • Weight loss and malnutrition can cause mesenteric fat depletion which collapses the duodenum within a narrowed aortomesenteric angle.
31
Q

Which gastointestinal organism is most efficient at breaking down urea?

A
  • PUNCH
  • Proteus, Klebsiella, Ureaplasmin, Nocardia, Cryptococcus, Helicobacter pylori.
  • H. pylori depends upon urease to adhere to allow it to survive and proliferate in the gastric milieu.
  • Hydrolyses gastric luminal urea to form ammonia that helps neutralise gastric acid and form a protective cloud.
  • Urease makes up >5% of the organisms total protein weight.
  • Diagnostic tests for H. pylori include biopsy urease testing and urea breath testing.
32
Q

What are laboratory findings in refeeding syndrome?

A
  • Hypophosphataemia.
  • Abnormal sodium and fluid balance.
  • Thiamine deficiency.
  • Hypokalaemia and hypomagnesaemia.
33
Q

What are the 3 most important disaccharides?

A
  • Sucrose.
  • Maltose.
  • Lactose.
34
Q

How is sucrose produced?

A
  • Fructose and glucose held together by an a bond.

- Found in table sugar.

35
Q

How is maltose produced?

A
  • Breakdown of starch by salivary and pancreatic amylase.

- Composed of 2x glucose with an a bond.

36
Q

What makes up lactose?

A
  • Glucose and galactose.
37
Q

Why is there absence of neural innervation in Hirschsprungs?

A
  • Arrest of neuroblast migration from proximal to distal bowel.
38
Q

What percentage of children with Hirschsprungs have total bowel agangliosis?

A
  • 5%.
  • 10-15% have long segement involvement.
  • Limited to rectosigmoid in 80%.
39
Q

What is found histologically in Hirshsprungs?

A
  • Absence of Meissner and Auerbach plexus.

- High concentrations of ACh between muscular layers and submucosa.

FRACP Paediatrics (16 decks)

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