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Gastro Flashcards

1
Q

Faecal osmolar gap

A

= 310 (normal faecal omsolality, or use actual stool osm if known) - 2x (Faecal Na + K)

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2
Q

Ix suggesting osmotic diarrhoea

A

Faecal osmolar gap >100
pH <5
Positive reducing substances

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3
Q

Embryologically, when is the liver formed

A

4th week

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4
Q

When does fetal biliary secretion start

A

12th week

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5
Q

Carbohydrate metabolism in the late fetal/neonatal liver

A

Fetal glycogen stores accumulate rapidly near term
Immediately post birth infant is dependent on hepatic glycogenolysis and gluconeogenesis to maintain BSLs (milk high fat low carb)
Stores of hepatic glycogen deplete, reaccumulate by week 2

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6
Q

Dominant fetal protein

A

aFP- synthesis of albumin increases in inverse from 7th/8th week gestation

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7
Q

Which enzyme is low in the neonatal liver, contributing to jaundice

A

Uridine diphosphate glucoronosyltransferase - develops rapidly after birth regardless of gestational age

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8
Q

Why are neonates particularly prone to TPN associated liver disease

A

Immaturity of the liver- reduced bile salt pool, hepatic glutathione depletion, deficient sulfation = production of toxic bile acids and cholestasis
Deficiencies of essential amino acids and excess lipid in TPN = hepatic steatosis

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9
Q

Criteria for cyclical vomiting syndrome (5)

A

All of:

  • 5 attacks in any interval, or 3 attacks in 6 months
  • Recurrent episodes of nausea and vomiting lasting 1 hour to 10 days, occurring at least 1 week apart
  • Stereotypical pattern and symptoms in the individual patient
  • Return to baseline health between episodes
  • Not attributed to another disorder
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10
Q

Cyclical vomiting

  • Age of onset
  • Clinical features
  • Associations
A

Onset 2-5 years old
Early morning or upon wakening
Prodrome similar to migraine
Assoc with epigastric pain, abdo pain, diarrhoea, fever
>80% have a first degree relative with migraine, may patients develop migraine in later life

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11
Q

Normal infant stool volume

Diarrhoea stool volume

A

Normal infants 5mL/kg/day
Diarrhoea (infant) >10mL/kg/day
Diarrhoea (older children) >200g/24hrs

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12
Q

Secretory diarrhoea

A

Examples: cholera, toxigenic E. coli, carcinoid, VIP, neuroblastoma, congenital chloride diarrhoea, C. diff, increased intraluminal bile salts
Watery stools with normal osmolality and stool ion gap <100
Diarrhoea persists during fasting
Stool WCC neg

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13
Q

Osmotic diarrhoea

A

Examples: lactase deficiency, glucose-galactose malabsorption, laxative abuse
Watery stools, pH <5, osm gap >100, positive reducing substances, negative WCC
Stops with fasting
Positive breath hydrogen

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14
Q

Diarrhoea due to increased motility

A

Eg. IBS, thyrotoxicosis
Loose-normal stool
Stimulated by gastrocolic reflex

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15
Q

Diarrhoea due to bacterial overgrowth

A

Secondary to decreased motility

Loose-normal stool

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16
Q

Diarrhoea secondary to decreased surface area

A

Combination osmotic and motility
Watery stool
Eg. Coeliac disease, short bowel syndrome, rotavirus

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17
Q

Diarrhoea due to mucosal invasion

A

Blood and increased WCC in stool

Eg. salmonella, shigella, yersinia, campylobacter

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18
Q

Causes of true constipation in neonate (3)

A

Hirschsprung
Intestinal pseudo-obstruction
Hypothyroidism

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19
Q

Cleft lip associations vs cleft palate associations

A

Lip: Cranial facial anomalies
Palate: CNS anomalies

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20
Q

Cleft palate sequelae

A

Recurrent OM
Malposition of the teeth
Hypernasal speech secondary to velopharyngeal dysfunction

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21
Q

GORD onset/timing

A

Peaks at 4-5 months (2/3 babies), <5% by 12 months

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22
Q

Barium swallow for Ix GORD

A

Used to exclude anatomical abnormalities eg. hiatal hernia
Can have false positives (test induces reflux) and false negatives (miss episodes) - neither sensitive nor specific for GORD

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23
Q

pH study for Ix GORD

A

Need to correlate episodes of symptoms with pH readings
Will not detect non-acidic reflux, and will miss brief episodes
False positives if probe placed too low
Normal ranges: 4% pH <4 (older children), 6% infants
Need to stop PPI before test

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24
Q

Endoscopy to Ix GORD

A

Only used if there is concern about reflux oesophagitis (eg. severe dyspepsia, unexplained anaemia, concern about strictures)

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25
Q

Intraluminal impedance to Ix GORD

A

Combination of pH probe and impedance electrodes- will detect acidic and non-acidic reflux

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26
Q

Eosinophillic oesophagitis

  • Link with atopy
  • Sex
  • Diagnosis
  • Scope findings
  • Pathophysiology
A

> 20% patients not atopic, >25% no FHx atopy
3:1 males
Mean age dx 7
Diagnosis: isolated (not rest of GI tract) osephageal eosinphilia >15/hpf
Linear furrows, white spots, trachealisation
Hypersensitivity reaction- combined immediate (Mast cells) and delayed (T cell)
Inhaled and ingested allergens
Can have elevated IgE and eosinophilia peripherally

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27
Q

Eosinphillic oesophagitis

  • Treatment
  • Prognosis
A

Can be responsive to PPI (PPI have antieosinophil effects)
Remove allergic stimulus- cow’s milk in infants, 4 ot 6 food elimination diet in older children
Trial elemental formula (neoncate, elecare) for 6-8 weeks then reassess - if improvement can trial reintroduction
Topical steroids, short term systemic steroids
Very little evidence of leukotriene receptor antagonsit, monoclonal Ab
Chronic relapsing remitting condition

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28
Q

FPIES

A

T cell mediated hypersensitivity
>90% have negative SPT and RAST at diagnosis (positive predicts a protracted course)
Symptoms 1-3 hours post ingestion
Usually anaemia, neutrophilia, thrombocytosis and hypoalbuminaemia at time of diagnosis
Cow’s milk FPIES have 60-90% resolution by 3 years

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29
Q

Wilson’s disease

  • Genetics
  • Ix
A 
AR- mutation in ATP7B gene 
Most people are compound heterozygous 
Ix
- Low caeruloplasmin 
- Serum copper non-specific
- Elevated urinary copper (very high- can be slightly elevated in other forms of chronic liver disease)- higher post penecillamine challenge 
- high AST:ALT 4:1
- Low ALP 
- Elevated liver copper on biopsy
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30
Q

Wilsons disease clinical features

A

Usual onset adolescence, >6 years
KF rings- older children who have had the disease longer
Initial Sx ADHD, behavioural deterioration

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31
Q

Wilsons disease Mx

A

Penicillamine challenge, liver biopsy
Penicillamine is the firts line choice for chelation- causes B6 deficiency and parasthesias
Trientene is second line
Zinc can be used in mild cases eg. pre-symptomatic siblings (competes with a displaces copper)
Screen siblings with genetic studies

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32
Q

Alagille syndrome

- Genetics

A

AD- JAG1, NOTCH2 <10%

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33
Q

Alagille syndrome

  • Major features (5)
  • Minor features (8)
A

R sided cardiac lesion 60-100% (peripheral pulmonary stenosis MC, ToF, PDA, septal defects)
Embryotoxon (thickened and centrally displaced anterior border ring of Schwalbe)
Vertebral anomalies - butterfly and hemi-vertebrae
Facial features 75% -Deep set eyes, broad forehead, prominent chin (stuck on)
Cholestasis with paucity of bile ducts (can look like biliary atresia on biopsy initially)

Short stature, FTT, IUGR
Delayed puberty
High pitched voice
Renal anomalies eg. renal dysplasia, RTA
Short radii
Hypercholesterolaemia
Vascular anomalies esp intracranial
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34
Q

A1AT deficiency

- Genetics

A

AR- SERPINA1 gene mutation
Most common allele of the protease inhibitor (Pi) system is M, Z predisposes to clinical deficiency
- Normal phenotype PiMM
- Liver disease PiZZ
- PiZ-, PiSZ, PiZI = predisposition to liver disease eg. NASH, rapid progression with Hep C

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35
Q

A1AT clinical features

A

Liver disease- can manifest of neonatal cholestasis or later-onset childhood cirrhosis
Jaundice, acholic stools and hepatomegaly present from 1st week - jaundice clears by month 2-4
Can have complete resolution, persistent liver disease or develop cirrhosis
Lung disease in 3rd or 4th decade

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36
Q

Hepatic hemangioma

A

MC benign liver tumour in childhood
Often assoc with hypothyroidism - receptors on tumour inactivates T4, resolved with tumour involution
Can have skin hemangiomas
Complications- high output cardiac failure, consumptive coagulopathy

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37
Q

Acute liver failure

A

MC cause non A-E hepatitis (seronegative viral infection)

INR best indicator of need for transplant

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38
Q

Biliary atresia workup

A

US to exclude other anatomical issues eg. choledochal cyst (normal does not exclude BA)- gallbladder may be absent or small, triangular cord sign
Isotope excretion scan eg. HIDA- sensitive but not specific for BA
Liver biopsy- if suggestive of BA continue on to intra-op cholagiogram +/- Kasai (much higher success rate of performed in first 8 weeks of life)

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39
Q

Heterotaxy

A

Biliary atresia, abdominal situs inversus, polysplenia (functional asplenia), portal vein anomalies, intestinal malformation, congenital heart disease

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40
Q

Primary sclerosing cholangitis

A 
High AST/ALT, high IgG, positive autoantibodies and inflammation on liver biopsy
Type 1: ANA/SMA positive
Type 2: LKM positive
Rare type: SLA positive
Dx by MRCP
Assoc with UC
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41
Q

Disaccharides (3)

A 
Sucrose = Glucose + fructose
Lactose = Glucose + galactose
Maltose = glucose + glucose
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42
Q

Monosaccharides (3)

A

Glucose, galactose, fructose

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43
Q

Primary adult-type hypolactasia

A

Physiological decline in lactase after weaning - after age 3

15% white, 40% asian, 85% black

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44
Q

Secondary lactose intolerance

A

Following small bowel mucosal damage eg. coeliac disease, rotavirus
Transient, improves with mucosal healing

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45
Q

Fructose malabsorption

A

Children with diet high in fructose (eg. juice, corn syrup) can present with diarrhoea, abdo distension, slow weight gain
Due to abundance of GLUT-5 transporters on the brush border membrane (5% of the population)

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46
Q

Glucose-galactose malabsorption

A

Na/glucose cotransporter gene- SGLT-1
Usually AR
Presents with large volume watery diarrhoea following ingestion of glucose, breast milk or lactose-containing formulas
Initially can only have fructose, later in life limited amounts of glucose may be tolerated
Diarrhoea ceases once intake is ceased

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47
Q

Short gut syndrome- definition

A

Loss of >50% small or large bowel

- Potential to wean TPN if >20cm bowel (>15cm if ileocaecal valve present)

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48
Q

Things absorbed in the duodenum and proximal jejunum (5)

A 
Carbohydrates
Protein
Iron
Water-soluble vitamins eg. folate
CMP
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49
Q

Things absorbed in the distal ileum (2)

A

B12

Bile salts

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50
Q

Things absorbed over the whole of the small intestine (2)

A

Mologlycerides and fatty acids

MCTs

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51
Q

Things absorbed in the colon (2)

A

Water

Electrolytes

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52
Q

Implications of resection of

  • Jejunum
  • Ileum
A

Jejunal resection better tolerated- ileum absorbs more Na and water, and can adapt to absorb other nutrients
Ileal resection- malabsorption and Na and water + malabsorption of bile salts causes further osmotic colon secretion of fluids and electrolytes = profound issues with fluid and electrolyte managemnt

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53
Q

Medications/dietary supplements used in short gut syndrome

A

PN
Trophic feeds with extensively hydrolysed and MCT-enriched formula/BM
Soluble fibre and antidiarrhoeals if large bowel output (although can increase risk of bacterial overgrowth)
Cholestyramine if distal ileal resection
Empirical treatment of batcerial overgrowth with metronidazole

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54
Q

Short gut syndrome complications (8)

A

TPN= line infection/thrombosis, hepatic cholestasis, cirrhoesis, gallstones
Obstruction
Infection
Bacterial overgrowth
Carbohydrate malabsorption
B12 deficiency- occurs 1-2 years after PN withdrawal
Renal stones secondaty to hyperoxaluria secondaty to steatorrhoea (Ca binds excess fat rather than oxalate)
Feeding colitis- bloody diarrhoea secondary to mild patchy colitis with progression of enteral feeds- Rx with hypoallergenic diet and mesalamine

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55
Q

Short gut syndrome prognosis

A

50% acheive enteral autonomy within 5 years fo resection

May need intermittent TPN

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56
Q

Cryptosporidium

A

Leading protozoal cause of diarrhoea in children, esp immunocompromised
Obtained by ingestion of oocytes - person-person, animal-person, water
Incubation 2-14 days
Profuse, watery, nonbloody diarrhoea
Systemic features
Fever 30-50%
Self limiting 5-10 days if immunocompetent

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57
Q

Coeliac disease aetiology

A

Immune mediated systemic disorder elicited by gluten (or related prolamine from rye, barley, oats) in genetically susceptible individuals
Causative factors:
- HLA gene (COELIAC1), DQ2 in 90%, DQ8 in the remainder
- Non HLA genes COELIAC2-4
- Drugs eg. inteferon alfa
Monozygotic twins have 100% concordance

Risk factors:

  • Frequent rotavirus = increased risk
  • Delayed introduction of gluten, BF, early introduction of gluten = no change to risk in high risk individual
58
Q

Coeliac disease pathophysiology

A

T cell mediated chronic inflammation

59
Q

Coeliac disease clinical features

A

Intestinal symptoms (usually presents < 2 years of age)
- FTT, chronic diarrhoea, vomiting, abdo distension, muscle wasting, anorexia, irritability
- Constipation, rectal prolapse, intussusception
Extra-intestinal features
- Apthous stomatitis, anaemia unresponsive to iron replacement
- Rickets, OP, enamel hypoplasia of the teeth (Ca and vit D malabsorption)
- Muscular atrophy (malnutrition)
- Peripheral neuropathy, epilepsy, irritability, cerebral calcifications, cerebellar ataxia (thiamine/B12 deficiency)
- Short stature, late puberty, secondary hyperparathyroidism
- Dermatitis herpetiformis, alopecia areata, erythema nodosum (autoimmunity)
- Idiopathic pulmonary haemosiderosis

60
Q

Risk factor to develop coeliac:

A
  • 1st degree relative FHx
  • Autoimmune thyroiditis, T1DM, autoimmune liver disease, autoimmune endocrinopathies, alopecia
  • Down, William, Turner syndromes
  • Selective IgA deficiency
61
Q

Types of coeliac disease

A

Clinical coeliac disease
Silent coeliac disease- asymptomatic 1st degree relative with small bowel mucosal damage on biopsy
Potential coeliac disease- positive Abs without small bowel changes
Latent coeliac disease- prev gluten-dependent enteropathy with normal histology

62
Q

Coeliac disease prognosis

A

Main cause of death is Non-Hodgkin Lymphoma

63
Q

Diagnosis of coeliac disease

A
  1. Screening with anti-TTG IgA + total IgA
    - Negative with normal total IgA = coeliac disease unlikely
    2a. TTG <10x upper limit => endoscopy with biopsy
    2b. TTG >10x upper limit => HLA and EMA antibodies
    - If positive diagnosis made
    - If negative for biopsy

Asymptomatic patient at high risk- diagnosis is by biopsy

64
Q

How much gluten per day is ok for coeliac disease

A

<20 ppm gluten = <50mg/day

65
Q

Intestinal lymphangiectasia

A

Obstruction of the lymphatic drainage in the intestine- congential defect or secondary (eg. constrictive pericarditis, CCF, retroperiotneal fibrosis, abdominal TB, retroperitoneal malignancies)
Assoc: Noonan, Turner, Klippel-Treunaunay
Lymphopenia, hypoalbuminaemia, hypogammaglobulinaemia, oedema, elevated stool A1AT, steatorrhoea, chylous ascites
Scope: uniform symmetric thickening of the mucosal folds throughout the small intestine
Rx: low LCT, formula containing protein and MCTs, supplement low fat diet with MCT oil`

66
Q

Congenital chloride diarrhoea

A 
Polyhydramnios
Secretory watery diarrhoea
Metabolic alkalosis 
Hypochloraemia and hyponatremia 
Elevated stool chloride >90
67
Q

Antibodies in coeliac disease

A

IgA more sensitive, only use IgG in IgA deficiency
TTG- sensitivity 93%, specificity 98%
EM- 99% specific, 70% sensitive
DPG (gliadin) less specific and sensitive

68
Q

IBD onset + classification

A

MC onset preadolescent - young adult
Bimodal- 10-20 years and 50-80 years
Paediatric <17 years
Early onset <10 years- more likely to have colonic involvement
Infant/toddler onset < 2 years
Neonatal onset- more likely to be monogenetic

69
Q

Risk factors for IBD (4)

A

Ethnicity- caucasian
FHx
- Both parents >35%
- 36% monozygotic twin concordance for CD, 16% UC
Syndromes- Turner, Hermasky-Pudlack, glycogen storage disease 1b, immunodeficiencies
Environmental- western diet, ABs at a young age, vaccination, smoking (CD)

70
Q

Antibodies positive in IBD

A

p-ANCA 70% UC, <20% CD

anti-saccharomyches cerevisiae 55% CD

71
Q

Clinical features IBD rectal bleeding, diarrhoea, mucous, pus

A

Common UC

72
Q

Clinical features IBD- abdo pain

A

Common CD

73
Q

Clinical features IBD- abdo mass

A

Common in CD, not present in UC

74
Q

Clinical features IBD- perianal disease

A

Common CD, rare UC

75
Q

Clinical features IBD- pyoderma gangrenosum

A

Rare CD, present UC

76
Q

Clinical features IBD- erythema nodosum

A

Common CD

77
Q

Clinical features IBD- mouth ulceration

A

Common CD, rare UC

78
Q

Clinical features IBD- Thrombosis

A

UC

79
Q

Clinical features IBD- strictures, fissues, fistulas

A

Common CD, rare UC

80
Q

Clinical features IBD- toxic megacolon

A

Present in UC, not in CD

81
Q

Clinical features IBD- sclerosing cholangitis

A

Present in UC, less common CD

82
Q

Clinical features IBD- cancer risk

A

Increased CD, greatly increased UC

83
Q

Clinical features IBD- growth retardation

A

15-40% CD patients short stature at diagnosis, 90% overall

84
Q

Associated features of IBD which correlate with severity of bowel disease (3)

A

Peripheral arthritis
Erythema nodosum
Anaemia

85
Q

Associated features of IBD which do not correlate with severity of bowel disease (3)

A

Sclerosing cholangitis, ankylosing spondylitis, sacroilitiis

86
Q

UC fulminant colitis

A

Fever, severe anaemia, hypoalbuminaemia, leucocytosis, >5 bloody stools per day

87
Q

UC prognosis

A

After initial treatment, 5% will have prolonged remission (>3 years)
25% presenting with severe disease will require colectomy within 5 years
Risk of colon cancer begins to increased 8-10 years post diagnosis (no increased risk if proctitis alone)

88
Q

AXR findings toxic megacolon

A

Colon >6cm

89
Q

UC treatment

A

Proctitis alone: 5-ASA enema/supp
Mild-mod: sulfasalazine/mesalamine (5-ASA)- continue in remission. Alt extended release budesonide.
Mod-severe: Prednisolone (may req IV), surgery if unresponsive to IV, inflizimab
Frequent relapses: azathioprine or 6-MP (steroid sparing)
Meds to maintain remission: probiotics (also reduce pouchitis), 5-ASA
Surgery: colectomy with J-pouch

90
Q

Side effects 5-ASA

A

Rash, fever, bloody diarrhoea (can be difficult to distingush side effects of 5-ASA from UC flare)

91
Q

Side effects of infliximab in UC

A

Increased risk of infection and malignancy

92
Q

Side effects of azathioprine in UC

A

Lymphoproliferative disorders

93
Q

Complications of colectomy/J-pouch in UC

A

Pouchitis 30-40%

Increased stool frequency once ileostomy reversed

94
Q

Rx which have no evidence in UC

A

TPN

Continuous enteral elemental nutrition

95
Q

Endoscopy features CD

A

Skip lesions, transmural inflamamtion

96
Q

Clincal manifestations CD

A

Obstruction - RLQ pain
Colonic inflammation- diarrhoea, bleeding, cramping
Systemic- fever, malaise, fatigue, growth delay, pubertal delay
Gastric/duodenal- epigastric pain and vomiting
Fistula formation- malabsorption, bacterial overgrowth

97
Q

CD Rx

A

5-ASA- mild disease
Metronidazole- 1st line for perianal disease
Steroids- exacerbations (do not continue once well, steroids do not promote mucosal healing)
Azathioprine/6-MP
MTX- improves height velocity
Infliximab- induction and maintenance of remission and mucosal healing
Enteral nutritional therapy (as effective as steroids in improving Sx and better for mucosal healing)

98
Q

No evidence for CD

A

Probiotics

99
Q

Hirschsprung disease epidemiology

A

1:5000 live births, 4:1 males short segment, 2:1 males total colonic agangliosis

100
Q

Risk factors for Hirschsprung disease

A 
Familial (long segment)
T21
Joubert syndrome 
Smith-Lemli-Opitz
Shah-Waardenburg syndrome
MEN2
Neurofibromatosis
Neuroblastoma
Congenital hypoventilation
101
Q

Hirschsprung genetics

A

Usually sporadic- AR or AD

Many genes involved including RET signalling pathway

102
Q

Duodenal obstruction

A 
Usually atresia
50% of patients prem
Associated with:
- Congenital heart disease 30%
- Malrotation 20-30%
- Annular pancreas 30%
- Renal abnormalities
- ToF
- Skeletal abnormalities
- Anorectal abnormalities
- 50% have chromosomal abnormalities eg. T21
- Polyhydramnios 50%
Double bubble on AXR
103
Q

Pyloric stenosis

A

1-3/1000 babies
RF:
- White>Black>Asian
- Males esp first born 4-6x more likely than females
- Mother with PS- 20% of male offspring, 10% of female offspring
- B and O blood groups
- Erythromycin in first 14 days
- Female infants of mothers treated with macrolides
- Apert syndrome, Zellweger syndrome, T18, Smith-Lemli-Opitz, Cornelia de Lange

104
Q

Meckel diverticulum

A
  • MC congenital anomaly of GIT
  • Caused by incomplete obliteration of the omphalomesenteric duct during 7th week gestation
  • 3-6cm outpouching of the ileum, usually 50-75cm from the ileocaecal valve (2 inches, 2 feet)
  • 2% of the population
  • 2 types of ectopic tissue- pancreatic or gastric
  • Generally present before the age of 2, 50% of all lower GI bleeds in <2 year olds
  • 2x more common in females
  • Acid-secreting mucosa causes intermittent painless rectal bleeding
  • Can be frank or melaena
  • Diverticulitis average age 8- similar to appendicitis

Meckel scan

  • IV infusion of technetium-99m pertechnetate => ectopic gastric mucosa take this up
  • False negative in anaemic patients
105
Q

Functional abdominal pain types

A

Functional dyspepsia
IBS
Abdominal migraine
Functional abdominal pain syndrome

106
Q

Functional dyspepsia

A

functional abdominal pain or discomfort in the upper abdomen

107
Q

IBS- criteria

A

Functional abdominal pain associated with alteration in bowel movements

All of the following:
- Abdo pain/discomfort associated with 2 or more of the following at least 25% of the time:
• Improvement with defaecation
• Onset associated with a change in frequency of stool
• Onset associated with a change in form of stool
- No evidence of other pathology

Can have PR mucous
Low FODMAP diet may help

108
Q

Abdominal migraine

A

Functional abdominal pain with features of migraine (paroxysmal abdo pain with anorexia, nausea, vomiting or pallor + FHX migraine)

109
Q

Functional abdominal pain syndrome - criteria

A

Functional abdominal pain without the characteristics of functional dyspepsia, abdominal migraine or IBS

25% of the time have at least one of the following:

  • Some loss of daily functioning
  • Additional somatic Sx such as headache, limb pain or difficulty sleeping
110
Q

Rome III criteria for childhood functional abdominal pain

A

All of:
o Episodic or continuous abdominal pain
o Insufficient criteria for other functional gastrointestinal disorders
o No evidence of an organic process that explains symptoms

111
Q

Evidence for Rx in functional abdominal pain

A

CBT- beneficial
Acid suppression for dyspepsia
Low dose amitriptyline, anti-diarrhoeal and non-stimulating laxative for IBS (inconsistent)
Famotidine- inconclusive
Peppermint oil in IBS- likely to be beneficial
Lactobacillus- unlikely to be beneficial
Lactose-restricted diet or fibre supplements- no evidence

112
Q

Achalasia

A

Incomplete relaxation of the lower oesophageal sphincter and lack of normal peristalsis
Clinical features- dysphagia, regurgitation, recurrent pneumonia, weight loss, chest discomfort
Autoimmune (Abs to auerback plexus)
Congenital (infancy or early childhood eg. Allgove syndrome - achalasia, alacrima, adrenal deficiency
Degenerative
Infection eg. Chagas disease
Barium fluroscopy- bird’s beak

113
Q

Oesophageal atresia/TOF

A

1/4000
90% blind upper oesophageal pouch with lower segment TOF
1/3 assoc with VACTERL

114
Q

Pregestemil

A

MCT formula

115
Q

Amino acid formulas

A

Elecare
Neocate
Alfamino

116
Q

Extensively hydrolysed formulas

A

Alfare
Pepti Jnr
Allerpro
Novolac

117
Q

Hep B antigens

A

HBsAg
HBcAg
HBeAg- marker of active viral replication, usually correlated with HBV DNA levels

118
Q

Hep B serology

A

Infection:
HBsAg positive ~4 weeks after infection- coincides with onset of symptoms
HBeAg + HBV DNA positive ~4 weeks after exposure
Elevated ALT ~8 weeks after exposure, peak 12 weeks
Later anti-HBc IgM positive
Anti-HBs may be negative during acute infection

Recovered past infection:
Anti-HBs positive
Anti-HBc IgG positive

Chronic infection:
Anti-HBc IgG positive
HBsAg positive
Anti-HBs negative
Viral PCR may be negative or positive

Vaccination:
Only positive anti-HBs, negative anti-HBc

119
Q

Hep A clinical features

A

Gastro-like illness +/- jaundice
Duration 1-2 weeks
Incubation period 3 weeks- viral shedding in faeces maximal just prior to onset of symptoms
ALF < 1%

120
Q

Extrahepatic manifestations hep c

A

Small vessel vasculitis
Membranoproliferative glomerulonephritis
Nephrotic syndrome

121
Q

Hep C treatment

A

Peginterferon, ribavirin (esp in genotype 2 or 3)
- Anaemia, neutropenia
Newer treatments available- lacking evidence in paediatric patients

122
Q

Hep C treatment

A

Peginterferon, ribavirin (esp in genotype 2 or 3)
- Anaemia, neutropenia
Newer treatments available- lacking evidence in paediatric patients

123
Q

Genetic disorders of UDP-glucoronulslytransferase + their clinical features

A

Crigler-Najjar type 1 and 2
Gilbert syndrome

Defect in UGT1A1 gene

Congenitally non-obstruction, nonhaemolytic unconjugated hyperbilirubinaemia

124
Q

Gilbert syndrome

A

Common plymorphism- TA insertion in the promoter region of UGT1A1
Occurs after puberty
5-10% of caucasian population
Not associated with chronic liver disease

125
Q

Crigler-Najjar syndrome type 1

A

AKA Glucuronyl transferase deficiency
AR- abolish UGT1A1 activity
Severe unconjugated hyperpilirubinaemia in the first 3 days of life
Kernicterus universal without treatment
Dx by liver biopsy/genetic studies
No response to phenobarbital treatment (there is a response in CNII)
Often need ongoing phototherapy through the early years of life
Cure- liver transplant

126
Q

Crigler-Najjar II

A

AKA partial glucuronyl transferase deficiency
AR, missense mutaton UGT1A1 gene
Responds to phenobarbital
Jaundice in the first 3 days, persisting >3 weeks of age
Kernicterus is unusual

127
Q

Crigler-Najjar II

A

AKA partial glucuronyl transferase deficiency
AR, missense mutaton UGT1A1 gene
Responds to phenobarbital
Jaundice in the first 3 days, persisting >3 weeks of age
Kernicterus is unusual

128
Q

Portal hypertension definition

A

Portal pressure >10-12 mmHg

normal ~7mmHg

129
Q

Clinical features of portal HTN

A

MC- varices
Splenomegaly
Hepatopulmonary syndrome >10%- arterial oxygenation defect due to intrapulmonary microvadcular dilation from release of endogenous vasoactive molecules in to the circulation eg. NO

130
Q

Treatment variceal bleeding

A

Fluid/blood resus
Vitamin K/FFP/platelets if port HTN is secondary to liver disease or other coagulopathy present
PPI infusion/H2-blocker infusion
Vasopressin infusion- increases splanchnic vascular tone and therefore decreases portal blood flow, alternatively octreotide
Endoscopic sclerosis or band ligation

131
Q

Chronic treatment varices

A

B-blockers eg. propanolol- lowers cardiac output and portal perfusion

132
Q

Chronic treatment varices

A

B-blockers eg. propanolol- lowers cardiac output and portal perfusion

133
Q

Liver transplant complications

A

Primary graft failure
Hepatic artery thrombosis 5-10%- early vascular complication
Portal vein/hepatic vein strictures -later
Biliary strictures MC- 30% post liver transplant
Rejection usually occurs within 1st 2 weeks-3 months
- Abnormal LFTs
MC infections CMV and EBV
EBV induced post-transplant lymphoproliferative disease

134
Q

Liver transplant complications (7)

A

Primary graft failure (rare in paediatric pop)
Hepatic artery thrombosis 5-10%- early vascular complication
Portal vein/hepatic vein strictures -later
Biliary strictures MC- 30% post liver transplant
Rejection usually occurs within 1st 2 weeks-3 months
- Abnormal LFTs
MC infections CMV and EBV
EBV induced post-transplant lymphoproliferative disease

135
Q

Causes of acute pancreatitis

A 
Blunt abdominal injuries
Systemic diseases eg. HUS, IBD
Biliary stones
Drugs- valproate, L-aspariginase, 6-MP, azathioprine
Infection
136
Q

Acute pancreatitis pathology

A

Insult –> premature activation of trypsinogen to trypsin within the acinar cells –> trypsin actives other pancreative proenzymes –> autodigestion

137
Q

Diagnosis of pancreatitis in children

A

2 of the following:
Abdominal pain
Serum amylase and/or lipase activity >3x upper limit normal
Imaging findings compatible with acute pancreatitis

138
Q

Genetic mutations leading to chronic/recurrent pancreatitis (4)

A

PRSS1- AD, recurrent attacks of pancreatitis
SPINK1- recurrent or chronic pancreatitis
CFTR- chronic pancreatitis from ductal obstruction
CTRC- recurrent pancreatitis

139
Q

GLUT transporters

A

SLC2A family
GLUT1- BBB + all cells
GLUT2- bidirectional transport of monosaccharides, renal tubular cells/liver cells/pancreatic b cells
GLUT3- neurons and placenta
GLUT4- adipose tissue, skeletal muscle, cardiac muscle

140
Q

Familial adenomatous polyposis

A 
MC genetic polyposis syndrome 
APC gene mutation, 30% de novo
- Colonic polyps - late in the first decade, >= 5 at time of diagnosis
- Colon cancer 100% by 50 years
- GI adenomas (eg. stomach, duodenum)
- Hepatoblastoma (1.6% by age 5)
- Extraintestinal: desmoid tumors, epidermoid cysts, osteomas, fibromas, and lipomas
Related syndromes- Gardner, Turcot
141
Q

Sensitivity and specificity of 99m technetium scan

A

Sens 85%, spec 95%

142
Q

PFIC (progressive familial intrahepatic cholestasis)

A 
Defective secretion of bile acids
Type 1, 2, 3
1 and 2 associated with life0threatening cholestasis, but no elevation in GGT
Assoc with HCC
2 Rx by liver transplant (but can recur)

Rx: urso, liver transplant

Exam (16 decks)

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