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Gastroenterology Flashcards

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1
Q

Cystic fibrosis predominantly affects which ethnicity?

A

Caucasian

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2
Q

How is cystic fibrosis inherited?

A

Autosomal recessive

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3
Q

Which gene is affected in cystic fibrosis?

A

CFTR (cystic fibrosis transmembrane conductance regulator)

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4
Q

What is meconium ileus?

A

Failure to pass the first stool in neonates (usually passes within 24-48 hours)

CF is the most common cause

Bilious vomiting, abdominal distension, no meconium

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5
Q

What is the primary screening test for CF?

A

Immunoreactive trypsinogen (IRT; elevated) on a heel-prick blood

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6
Q

Why is immunoreactive trypsinogen elevated in CF?

A

IRT has not been converted to its active form due to impaired release of pancreatic enzymes

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7
Q

What test is used to confirm CF after abnormal IRT?

A

DNA assay to identify common CFTR mutations

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8
Q

What is the diagnostic criteria for CF?

A

Typical clinical manifestations of CF

AND

Evidence of CFTR dysfunction

Sweat chloride > 60 mmol/L on two occasions

OR

CFTR gene mutation

OR

Abnormal nasal potential difference test

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9
Q

What is the most important factor in CF prognosis?

A

Severity of pulmonary disease

Chronic respiratory infections and mucus plugging → irreversible bronchiectasis → progressive respiratory failure → death

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10
Q

Is physiological neonatal jaundice conjugated or unconjugated?

A

Unconjugated

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11
Q

When does physiological neonatal jaundice occur?

A

Between days 3-8 of life

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12
Q

Give 3 causes for physiological neonatal jaundice

A
  1. HbF replaced with HbA (haemolysis)
  2. Immature hepatic conjugation and elimation pathways → impaired metabolism
  3. Less bacteria in the GIT → less conversion of bilirubin to urobilin → less excretion of bilirubin
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13
Q

Where is the vomiting (emetic centre)?

A

In the medulla

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14
Q

Which autonomic nerve mediates emesis?

A

Vagus

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15
Q

What electrolyte changes are seen in children with pyloric stenosis?

A

Metabolic acidosis (low H+, high HCO3- to compensate)

Low Cl-

Low K+

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16
Q

What surgical procedure is done for pyloric stenosis?

A

Pyloromyotomy

Incision is made through the pyloric sphincter and the lumen can bulge through this opening

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17
Q

What is the feed test in the context of suspected pyloric stenosis?

A

Shortly after eating, peristalsis may be visible

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18
Q

Which type of inguinal hernia involves protrusion of the bowel through the internal inguinal ring, external inguinal ring and into the scrotum?

A

Indirect inguinal hernia

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19
Q

Which type of inguinal hernia herniates lateral to the inferior epigastric artery?

A

Indirect

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20
Q

Which type of inguinal hernia herniates medial to the inferior epigastric artery?

A

Direct

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21
Q

Which type of inguinal hernia protrudes through the inguinal (Hesselbach’s) triangle?

A

Direct

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22
Q

Which type of inguinal hernia involves herniation through the external (superficial) inguinal ring only?

A

Direct

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23
Q

What is the best method of assessing dehydration?

A

% loss of body weight

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24
Q

What is the role of anti-diarrhoeal drugs in infants and children with gastroenteritis?

A

NO role - do not use

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25
What is the role of anti-emetic drugs in infants and children with gastroenteritis?
Ondensetron may be used Reduces vomiting Improves intake of oral rehydration solutions Reduces the need for IV fluids and hospitalisation Can worsen diarrhoea
26
When is the peak incidence of intussusception?
3-12 months
27
What is this?
Target sign of intussusception
28
From what age/weight can ondansetron be used?
6 months/8kg
29
Acute abdominal pain with **legs drawn up** and with **asymptomatic intervals** is characteristic of which condition?
Intussusception
30
What is perferred treatment of intussusception?
Air enema
31
What investigations should be performed for intussusception?
1. AXR (exclude perforation and obstruction) 2. US 3. Air enema (diagnostic and therapeutic)
32
What pathogen is associated with reptiles?
Salmonella
33
Why do children with pyloric stenosis have high bicarbonate?
The kidneys reabsorb bicarboante to maintain fluid volume despite the metabolic alkalosis If bicarbonate is loss, sodium follows, then water
34
What is breastfeeding jaundice?
The persistence of physiologic jaundice beyond the first week of life ## Footnote *Exclusive breastmilk intake may increase intestinal absorption of bilirubin*
35
List 4 causes of neonatal conjugated hyperbilirubinaemia
1. Hepatitis A/B 2. Cystic fibrosis (decreased bilirubin excretion) 3. Biliary atresia 4. TORCH infections 5. Choledochal cyst 6. Dubin-Johnson syndrome 7. Rotor syndrome 8. Alpha-1-antitrypsin deficiency
36
List 4 causes of neonatal unconjugated hyperbilirubinaemia
1. Haemolytis disease of the newborn 2. Spherocytosis 3. Thalassemia 4. G6PD deficiency 5. Crigler-Najjar syndrome 6. Glucuronyl transferase deficiency 7. Hypothyroidism 8. High GI obstruction
37
What is kernicterus?
Chronic bilirubin encephalopathy Rare complication of uncongugated hyperbilirubinaemia *Cerebral paresis, vertical gaze palsy, hearing impairment, athetosis (movement disorder)*
38
When might bilirubin be positive on urinalysis?
Failure of conjugated bilirubin to reach the intestines → bilirubin is not converted to urobilinogen **Biliary obstruction** **Hepatic disease**; hepatocellular disease, cirrhosis, hepatitis
39
What might cause an elevated urobilinogen on urinalysis?
Conjugated hyperbilirubinaemia Impaired hepatic reabsorption of urobilinogen; liver disease *Absent or decreased in obstructive jaundice*
40
What causes steatorrhoea?
Pancreatic e.g., chronic pancreatitis, CF Malabsorption e.g., coeliac, giardiasis, Whipple's disease, Crohn's Biliary e.g., PBC, PSC
41
What are the two main diagnostic laboratory tests for coeliac disease?
IgA anti-tissue transglutaminase antibody IgG deamidated gliadin peptide (test of choice for children \< 2)
42
Do perianal fistulae or abscesses suggest UC or CD?
Crohn's disease
43
What is the most common cause of acute abdomen in premature infants?
Necrotising enterocolitis
44
What is the proposed pathophysiology of necrotising enterocolitis?
Mucosal damage and enteral feeding → bacterial growth → bowel necrosis/gangrene/perforation
45
How is necrotizing enterocolitis diagnosed?
AXR
46
What is this radiographic sign?
Pneumatosis intestinalis (necrotising enterocolitis) Bubbles of gas within the wall of the intestine "string of pearls" sign
47
What is Dance's sign?
RUQ mass (intussusception) with RLQ empty space (movement of cecum out of normal position)
48
Which immunisation has been linked to intussusception?
Rotavirus ## Footnote *Intussusception more common following immunisation*
49
What often preceeds intusucception?
Viral infection Enlarged lymph nodes can act as a lead point
50
Which part of the GIT is affected by rotavirus?
Jejunum and duodenum
51
What % of conjugated bilirubin as a proportion of total bilirubin suggests conjugated hyperbilirubinaemia?
20%
52
What transcutaneous bilirubin (TcB) is an indication for serum bilirubin measurement?
\> 250 micromol/L
53
What are the potential side effects of phototherapy?
Overheating Water loss from increased peripheral blood flow and diarrhoea (if present) Diarrhoea from intestinal hypermotility Ileus (preterm infants) Rash Retinal damage ‘bronzing’ of neonates with conjugated hyperbilirubinaemia Temporary lactose intolerance
54
What is defective in Crigler-Najjar syndrome?
UDP-glucuronosyltransferase activity ## Footnote *Liver enzyme responsible for conjugating bilirubin*
55
What is defective in Dubin-Johnson syndrome?
MRP2 transporter Impaired movement of conjugated bilirubin from the hepatocyte to the bile canaliculi
56
Which syndrome is most strongly associated with duodenal atresia?
Down syndrome
57
What might cause bilious vomiting in a neonate?
Volvulus Intestinal atresia
58
What might cause haematemesis in infants?
Oesophageal varices (severe) Mallory-Weiss tear Erosive esophagitis or gastritis Peptic ulcer
59
What is the most common presentation of a Meckel diverticulum?
Painless rectal bleeding
60
How does age at presentation affect the likelihood of Crohn's disease vs ulcerative colitis?
\< 8 - UC/Crohn's, usually isolated colonic disease \> 8 - most likely Crohn's disease
61
What are the most useful indicators of possible IBD in a child with abdominal pain?
Diarrhoea Growth failure Pubertal delay Weight loss Rectal bleeding Pallor/fatigue Perianal skin tags/fistulae Family history of IBD
62
What are the classic features of abdominal pain from Crohn's disease?
Localised in the RLQ May be peritonitic
63
Is hematochezia and the passage of mucus or pus characteristic of UC or CD?
Ulcerative colitis
64
Are bowel obstructions characteristic of UC or CD?
CD
65
Which antibodies are most commonly used to support an IBD diagnosis?
Perinuclear antineutrophil cytoplasmic antibodies (P-ANCA) Anti-saccharomyces cerevisiae antibodies (ASCA)
66
What is the usefulness of antibody tests in distinguishing CD and UC?
Perinuclear antineutrophil cytoplasmic antibodies (P-ANCA) - weakly associated with CD Anti-saccharomyces cerevisiae antibodies (ASCA) - weakly associed with UC
67
Is transmural inflammation characteristic of CD or UC?
CD
68
Are granulomas characteristic of CD or UC?
Crohn's disease
69
What is the prognosis for a congenital umbilical hernia?
90% spontaneously resolve by 5 years
70
What is aphthous stomatitis?
Small, shallow, non-infectious and painful oral ulcers "canker sores"
71
Which nutritional deficiency is most strongly linked with aphthous stomatitis?
B12 ## Footnote *Also folate and zinc*
72
Food poisoning from reheated rice and food kept warm but not hot is characteristically from which pathogen?
*Bacillus cereus*
73
What exposure characteristically leads to *Staphylococcus auerus* food poisoning?
Inadequately refrigerated food (canned meats, mayonnaise/potato salad, custards)
74
How is mesenteric adenitis diagnosed?
Ultrasound showing abdominal lymph nodes \> 8mm ## Footnote *Small appendix must be demonstrated to rule out appendicitis*
75
What causes a congenital indirect inguinal hernia?
Failure of the processus vaginalis to obliterate
76
What is encopresis?
Faecal incontinence in a child \> 4 years old *At least 1 per month for 3 months*
77
What may cause encopresis?
Chronic constipation Hirschsprung disease Hypothyroidism Hypercalcaemia Spinal cord lesions Anorectal malformations Bowel obstruction
78
What are the characteristics of the abdominal pain in HSP?
Colicky +/- nausea and vomiting +/- bloody stools or melena
79
Where is the most common site of intussusception?
Ileocecal junction
80
What causes current jelly stools in intussusception?
Sloughed mucosa following ischaemia
81
What are the DDx for bilious vomiting in a neonate?
Midgut volvulus Intestinal atresia (distal to empying of the bile duct) Hirschsprung's disease
82
Where is the most common location of a Meckel's diverticulum?
2 feet proximal to the ileocecal valve
83
At what age can elective surgery for an unresolved umbilical hernia be performed?
5 years ## Footnote * High chance of self-resolution before this age* * 2-3 years if large or symptomatic*

Paediatrics (24 decks)

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