Gastroenterology Flashcards
What are sx of coeliac disease?
FTT (36%) Buttock wasting Diarrhoea (30%) Irritability (30%) Vomiting (24%) Anorexia (24%) Foul stools (21%) Abdo pain (8%) Excessive appetite (6%) Rectal prolapse (3%)
Positive endomysial antibody (on gluten) and Anti-TTG
achalasia
failure of smooth muscle fibres of lower oesophageal sphincter to relax during swallowing.
–> regurgitation of food
Risk of microaspiration
Rare –approx 0.1 per 100,000 children
Degeneration of myenteric neurons innervating LOS Dysphagia, regurgitation, reflux symptoms, aspiration Diagnosis by imaging (dilation of oesophagus with “beaking”and manometry
Treatment –Heller myotomy (dividing lower muscles)
best ix for GORD?
was pH studies
- poor tolerance
- doesn’t pick up non-acid reflux
- milk barrier
- doesn’t pick up transient changes
Now best practice (if available is impedence studies)
- often used with pH studies
- detects changes in impedence between electrodes
- if gas bolus –> rise in impedence (peak)
- if fluid bolus –> decreased in impedence (trough)
CMPA and GOR
Overlap between allergy and reflux
Allergy causes inflammation and subsequent dysmotility
Delayed gastric emptying and dysrhythmias may precipitate vomiting
16-42% GOR attributable to CMPA –> clinical presentation with associated diarrhoea and atopic dermatitis
Sandifer syndrome
Spasmodic torsional dystonia with arching of the back and rigid opisthotonic posturing, mainly involving the neck, back, and upper extremities
- associated with GOR and oesophagitis
- Typically, observed from infancy to early childhood. Peak prevalence is in individuals younger than 24 months. Children with mental impairment or spasticity may experience Sandifer syndrome into adolescence
NASGHAN/ESPGHAN guidelines (2009) for Ix and Rx if reflux
Investigate if warning signs (i.e bilious, FTT, seizures, abdom distension etc)
Physiological reflux –avoid drug treatment, consider thickeners
Vomiting with faltering growth
exclude other causes
2-4 week trial of hypoallergenic feed (pepti-junior) refer on to Paeds Gastro if no improvement
eosinophilic oesophagitis
Can present with recurrent episodes of obstructive dysphagia requiring endoscopic removal in older children
In younger children- abdo pain, GOR like sx, difficulty swallowing, aversion, FTT
Babies - irritability, aversion, FTT, vomiting
Barium meal normal
Combined immediate and delayed hypersensitivity - mast cells and T cells
Inhaled and ingested allergens (particularly cow/soy milk(60%), egg, wheat, soy, nuts, fish)
SPT + EAST not helpful poor PPV
M: F 3:1
Strong hx atopy/Fhx atopy
Endoscopy:
Isolated eosinophilia >20/hpf
worst inflammation proximally
can affect stomach
if transmural disease = increased risk of srictures
sometimes can be responsive to omeprazole
Rx: remove food, up to 6 food elimination. may need elemental formula. Swallowed CCS. Up to 10-20% will respond to high dose PPI)
NOT the same as eosinophilic gastroenteropathy
FB ingestion when to remove
If stuck at narrow points (unlikely to shift)
- Oesophagus at level of cricoid
- Oesophagus at level of aortic arch
- LES
OR:
If object is sharp, long (>5 cm), and is in the oesophagus or stomach
If ingested object is a high-powered magnet or magnets
If disc battery is in the oesophagus (and in some cases in the stomach)
If the patient shows signs of airway compromise
If there is evidence of near-complete oesophageal obstruction (eg, patient cannot swallow secretions)
If there are signs or symptoms suggesting inflammation or intestinal obstruction (fever, abdominal pain, or vomiting)
Only 10-20% need removal
Can XR every week for 4 weeks (if in stomach). If not passed then remove
Helicobacter pylori and stomach
Gram negative bacilli
Can cause epigastric pain (uncommon cause recurrent abdo pain in kids)
commonly acquired in childhood (small % symptomatic)
Causes a nodular gastric antrum
Increased risk of gastric lymphoma
Associated with Fe deficiency (uncommon cause)
- Only test for H.pylori if specific sx as may play important role in atopic protection
- CLO test can have false positives, consider antigen test in stool (but only confirms have HP NOT necessary disease)
- Should do biopsy to look for significant disease before eradicating (possible role in preventing autoimmune disorders, Toxicity of Rx, Resistance)
- Screen those with Fhx gastric carcinoma, refractory iron deficiency or peptic ulcer disease.
Allergic proctocolitis
Mean age at presentation 8 weeks
60% occurs in breastfed
Healthy infants with blood +/-mucous in stool Trigger –cow’s milk or less commonly soy
Non IgE-mediated
Extensive investigation generally not required
mgmt:
Exclusion of cow’s milk from maternal diet
≤30% may require further protein restriction1 Hydrolysed feed (pepti-junior)
Resolution within 48-72 hours
Persistent symptoms warrant referral
5-10% may require elemental formula
Triggering protein generally reintroduced successfully by 1-2 years
Long-term prognosis good
Coeliac antibody tests
- Anti-TTG (anti-tissue trangutaminase)
- EMA (most specific) (endomysial antibody)
Anti-gliadin IgA
Note: Anti-gliadin IgG is NOT helpful
CMPI/CMPA
Can present early or later (i.e 6 months)
Associated with atopic (eczematous) kids
Vomiting, loose stools, irritability, FTT
Cow’s milk sensitive enteropathy
IgE and non-IgE mediated
Temporary disorder of infancy - variably abnormal small intestinal mucosa while milk is in the diet.
This abnormality is reversed by a cow milk-free diet, only to recur on challenge.
Important predisposing factors are age (<3 years), transient IgA immunodeficiency, atopy, and early bottle feeding.
histologically- mild-to-moderate partial villous atrophy with thin, often patchy mucosa.
++ fatty acid crystals in stools (neg WCC, RCC, Fat globules)
Other sx affecting multiple systems
GI (50-60%, dermatologic (50-70%) and less so respiratory and systemic
FPIES
Food protein induced enterocolitis syndrome
Rare allergy to first time ingestion of new food (cow’s milk, soy, chicken, rice, egg, potatos, shellfish)
Food allergens cause local inflammation, increased intestinal permeability & fluid shifts
T-cell mediated
↑TNF-αand ↓TGF-B
Occurs 1 day to 1 year of age
Profuse vomiting (1-3 hours post ingestion) and watery diarrhoea (2-10 hours post ingestion)
Metabolic acidosis
Afebrile
Shock like sx - tachycardia, hypotension, pallor, lethargy
Need aggressive IVF
Resolution by 3 years
+ve IgE predicts protracted course
Needs oral food challenge in hospital prior to reintroduction at home
Can get chronic FPIES - diarrhoea, FTT, lethargy, abdominal distension
Chronic FPIES
Diarrhoea, FTT, lethargy, abdominal distension
Clinical diagnosis
Frequent anaemia, neutrophilia, thrombocytosis and hypoalbuminaemia
>90% have negative skin prick tests and RASTs at diagnosis
Role of atopy patch testing unclear1 (colonoscopy -diffuse colitis +/-ileal involvement
IgE mediated immediate onset food hypersensitivity
Can occur in children with cow’s milk allergy (i.e diarrhoea and reducing substances) who have accidental ingestion and present with SUDDEN onset profuse watery diarrhoea and shock
Causes of early onset IBD
- Immune mediated
Autoimmune enteropathy
IPEX
IL10 receptor - Multisystem disease
60% have genetic abnormality - Isolated
28% have genetic abnormality
Populations at increased risk of coeliac disease
First degree relatives 10-20% Type 1 DM - 3-12% Down syndrome 5-12% Autoimmune thyroid disease up to 7% Turner syndrome 2-5% William's syndrome up to 9% IgA def 2-8% Autoimmune liver disease 12-13%
Disaccharides
SMaLL
S- sucrose (glucose and fructose)
Ma - Maltose (glucose x2)
L- Lactose (glucose and galactose)
L-Lactulose
SGLT-1
Sodium glucose transporter in the gut (NAKATPase dependent
Absorbs glucose and galactose
Monosaccharides
Glucose
Fructose
Galactose
Ribose
Xylose
Glucose-galactose malabsorption syndrome
1/500,00
AR
-Mutation in gene coding SLC5A1 (Na+/glucose co-transporter pump) –> SGLT-1 active transporter defect
-Transporter sits in apical membrane of enterocyte
Profuse watery and acidic diarrhoea from birth
Hypernatremic dehydration
MUST have glucose and galactose free diet THEREFORE cannot have any disaccharides as all contain glucose or galactose
Have fructose based formula
May develop some form of tolerance later in life
Good prognosis
Fatty acid crystals in stools
can be found in cholestasis and CF but FAR more often due to parasites
Coeliac disease genetic susceptibility
Associated with MHCII and the alleles encoding the HLA molecules
-HLA-DQ2 and HLA-DQ8 haplotypes
BUT 30-40% of normal popn have these haplotypes and most never get the disease
BUT at LEAST 98% of peeps with coeliac disease are positive AND 50% of healthy relatives will be +ve
Dermatitis herpetiformis
Painful and intensely itchy rash
Associated with coeliac disease
coeliac antibody positive on biopsy
Rx: Gluten free +/- dapsone (antibiotic also used to treat leprosy. Has anti-inflammatory properties)
Causes of false +ve anti TTG
T1DM Chronic liver disease psoriasis rheumatoid arthritis heart failure
Osmotic diarrhoea
Large amount of unabsorbed solutes in gut Osmotic gap >50mOsml/kg (290 - 2xNa+ + K+) Low Na, Low K Improves with fasting
If High osmotic gap AND pH<5 = disaccharide deficiency
Causes: Laxative abuse Diassacharide deficiencey Bacterial overgrowth Inflammation Exocrine pancreatic deficiency Malabsorption (coeliac, pancreatic disease, short gut, UC)
Secretory diarrhoea
Large amount of secreted electrolytes
Osmotic gap <50mOsm/kg
High Na, High K+
Continues with fasting
Causes: MAINLY infectious -toxugenic E.coli -Cholera Gut hormone tumour Autoimmune enteropathy
Crohn’s disease
Perianal disease common in children
May only present with growth failure, pubertal delay
More commonly abdo pain and diarrhoea
Fistulating and stricturing disease
Inflammatory markers and systemically unwell more common than UC
Extra-intestinal disease less common 1:2 cf with UC
ASCA positive in 50-60% casesRarely orofacial granulomatosis
Rx more effective than in UC
- Enteral
- 5-ASA (pentasa)
- Steroids
- Azathioprine/Mtx
- Antibiotics
- TNF mono antibodies
- Enteral
Extra intestinal disease of IBD
Joints
- Type 1 –> large, isolated joints. Rx disease, gets better. HLAB27, HLA B35 and HLA-DR related
- Type 2 –> small, multi joints. Independent of disease. Can be associated with anterior uveitis
Aklyosing spondylitis - 5-10%. Independent of disease
Eyes
-Keratopathy
- Anterior uveitis, scleritis, episcleritis
Rx disease, gets better
PSC
- UC>CD
-<4%
Progressive cholangiopathy
Autoimmune hepatitis -Type 1 (ANA/SMA +ve) -Type 2 (KLM +ve) Up to 1.6% patients Rx with azathioprine/pred
Treatment of IBD
Crohn’s
EEN, CCS
UC
EEN (nutrition only), CCS
Maintenance IBD
CD Supplemental EEN Azathioprine /6MP MTX Biologicals (Pentasa)
UC
Pentasa (5ASA)
Azathioprine
Infliximab
hepatic steatosis
Pretty common in overweight and obese kids
<15 years 20% overweight, 10% obsese
++caloric intake with insufficient expenditure –> fatty deposition
Also Need to store excess glucose–> ++insulin –> more fat storage
Hep C
3.7% infants acquire HCV (vertical = horizontal)
Transplacental transmission
Infection rate HIV +ve mothers is 25%
Increased risk if PROM >6hrs and internal fetal monitoring
Highest rates chronic carriage
up to 19% children spon clear within 6 years
Progression rare but Rx because risk of long term morbidities (hepatitis, small vessel vasculitis- mixed cryoglobulinemia, extra intestinal)
Rx: nucleoside analogues (ledipasvir, paritaprevir) up to 12 weeks rx. Ongoing paeds trials
Wilson’s disease
AKA hepatolenticular degeneration
- AR
- ATP7B gene (13q14.3), copper transporting mutation and critical biliary excretion of copper
- Most are compund heterozygotes
- Degenerative changes in brain, liver disease and kayser-fleischer rings (always present with neuro disease. not usually present unless older child).
- Suspect if liver disease (even asymptomatic hepatomegaly) in any child >5 years old
Sx: asymptomatic, spectrum of liver disease, portal HTN, neurological sx, delayed puberty, amenorrhoea, coag defects, haemolytic (non-immune) anaemia, renal fanconi.
Ix:
Free serum ceruloplasmin level (copper carrying protein) - low
Serum copper NOT useful
Urine copper (with penicillamine challenge) –> increase in levels BOTH pre AND post penicillamine. MAY be enough for dx without biopsy
AST:ALT ratio 4:1 diagnostic
Gold standard is liver biopsy with copper level estimation
Rx:
Low copper diet (no choc, nuts or shellfish)
Zinc +vitamin B6 (supplement as low when on peniclliamine)
Zinc can also displace copper –> useful in mild cases such as presymptomatic siblings
Penicillamine (copper chelator and vitamin B antimetabolite), s/e occur in up to 20% include goodpastures, SLS, PMR, nephrosis, aplastic anaemia)
Trientine if unable to tolerate Penicillamine
Gilbert syndrome (benign inherited deficient conjugation of bilirubin - UDP-GT deficiency)
2-10% popn Benign genetic disorder Alteration in promoter for UGT1A1 - decreases gene ACTIVITY by about 30% (normal levels) Mild unconjugated hyperbilirubenmia Mild jaundice with stress or fasting
No rx needed
Crigler-Najjar Type 1 and 2
pathological inherited deficient conjugation of bilirubin - UDP-GT deficiency
Type 1
Complete absence UGT1A1 so NO enzyme (birubin uridine diphosphate glucoronosyltransferase)
AR
Onset 1-3 days of life. Continues to rise. If untreated get kernicterus. Light yellow stool.
Rx: On-going PTx, identify and quickly rx illnesses and illness raises bilirubin
Liver transplant only definitive cure
Type 2
Deficiency in UGT1A1 –> <10% UGDT levels
AR
Missense mutation
Onset 1-3 days of life with raised bilurbin (much more mild than type 1) –> very mild phenotype
Continue to rise until week three then stay stable, often asymptomatic
Rarely kernicterus
Normal stool
Rx:
Respond readily to phenobarbitol (stimulates UGTA1A promotor) - lifelong
Budd chiari syndrome
Obstruction to hepatic veins (between efferent hepatic veins and IVC or even into the right atria)
Cause is often unknown or secondary to thrombosis or coagulopathy
Other causes include Behcets syndrome, IBD, aspergillosis, IVC webs
Cause of cirrhosis and portal HTN in childhood
Venocclusive disease
Most frequent cause of hepatic vein obstruction in kids
Occlusion of centrilobular venules or sublobular hepatic veins
Occurs post transplant
Occurs after total body irradiation with or without cytotoxic drug therapy prior to bone marrow transplamt
Autoimmune hepatitis
Primarily hepatocyte process (unless associated with IBD (UC>CD) or primary sclerosing cholangitis)
Type1: Less severe than type 2 ANA and SMA +ve in 50% of kids with type 1 Most common type Occurs at any age 75% female Responds well to Rx usually Variable risk relapse
Type 2: Most severe Liver kidney microsome (LKM) +ve in large proportion with type 2 Often age 10-20 years old 95% female Frequent Rx failure and relapse
Sx both:
Wide range, may present primarily liver disease or extrahepatic
Malaise, fatigue, weight loss, cirrhosis, portal HTN
Liver may be big or normal
Big spleen common
Raised ALT, AST. May have slightly raised GGT, ALP often normal
Low albumin
Raised total protein (cos raised gammaglobulin IgG)
Commonly co-exists with sclerosing cholangitis
Rx:
- Steroid
- Azathioprine +/- ccs
- Mycophenalate motifil
Sclerosing cholangitis
PSC if associated with IBD; ASC if associated with IB and AIH
Common AUTOIMMUNE hepatobiliary disease in children
Progressive inflammation and fibrosis of intra and extra-hepatic biliary ducts
Commonly co-exists with autoimmune hepatitis
4% patients with UC
30-40% those with PSC have UC (usually dx PSC in 2nd decade of life)
40-50% those with AIH have PSC
Raised ALP and GGT AND raised AST/ALT AND raised IgG
Ix: Liver biopsy is definitive (periductal fibrosis and inflammation, portal fibrosis)
BUT dx usually made by cholangiography (MRCP) which may show irregularity or ‘beading’ of ducts
ERCP may be needed for dx and intervention i.e stenting of ducts
Does not respond to immunosuppression :( (UNLESS ASC) No effective RX unless liver transplant Support Rx - URSO for itchy -TPN
Complications: Ascending cholangitis - give Abx Portal HTN Biliary strictures Cholangiocarcinoma
Biliary atresia
1:3,000 to 20,000 Progressive obliterative cholangiopathy Possible genetic component (often 2nd or 3rd cousin also have it) Increased in Maori and PI Variable presentation Cholestatic jaundice Acholic stool (not pathognmonic as can occur in CF, A1AT deficiency, PFIC) Look well Initially growing well
Fetal onset may have polysplenia syndrome with abdominal heterotaxia, malrotation, levocardia and intra-abdominal vascular abnormalities
DDX: Neonatal hepatitis Intrahepatic cholestasis Alagille syndrome A1AT deficiency, CF PFIC
Ix:
- USS - may have contracted bladder. May have presence of triangular cord (cone shaped fibrotic mass carnial to bifurcation of portal vein) –> also exclude choledochal cyst
- Cholangiogram - may show no extrahepatic ducts
- Liver biopsy- bile ductular proliferation, bile plugs, portal or perilobular oedema, hepatocellular structure relatively preserved (NOTE early allagille can look the same).
-HIDA scan - no excretion of isotope into the intestine (non-specific as can occur in other neonatal liver diseases, especially if ++ inflammation of liver = poor uptake of isotope)
Rx:
- Kasai procedure (portoenterostomy) –> transection of the portis hepatis with anastamosis of bowel to the proximal surface to help allow bile drainage
- -> MUST be done as early as possible (1-2 months) for best success rate (up to 90%) - Vitabdeck and vitamin A ESP Vit E to prevent degenerative neuromuscular syndrome
- Nutrition (medium chains as decreased bile acids = cannot absorb Long chain FA)
- Ursodoxycholic acid for itch (from bile acids and xantholomas)
- Treatment of ascites with low salt diet, diuretics (spironolactone as first choice). Rule out spontaneous bacterial peritonitis and rx if have it
- Ix and Rx of haematemesis (increased risk of gastritis and PUD)
- Rx of oesophageal varices –> band ligation
Progressive familial intrahepatic cholestasis Type 1
- PFIC1
- most severe form
- Similar to alagille but no bile duct paucity or extrahepatic features
- more common in ahmish families
Gene ATP8B1 On chromosome 18.
Transporter defect of bile acids
Systemic –> including intestine
Present with Steatorrhoea, vitamin D deficiency ricketts, pruritus, progressive cholestasis and LOW GGT
Rx:
Transplant
Diarrhoea post transplant
PFC type 2
Chromosome 2
ABCB11 gene- defects in cannalicular ATP dependent bile acid transporter (BSEP)
More common in middle eastern european families
- Similar presentation to PFC1
- LOW/NORMAL GGT
- Progressive disease due to accumulation of bile acids secondary to reduce secretion of cannalicular bile acid
- Can have variable presentation
- -> Known as BRIC 2 which is characterized of recurrent bouts of cholestasis associated with cholelithiasis and watery diarrhoea
- Increased risk of hepatocellular carcinoma
Rx: can possible do biliary diversion
PFC type 3
Transporter defect
Defect of MDR3 (gene ABCB4)
-phospholipid transporter defect
–> results in phospholipid in ducts which cause damage
Presents with HIGH GGT
Mothers who are heterozygous can present with intrahepatic cholestasis in pregnancy
Hereditary pancreatitis
- Defect in either PRSS1 (cationic trypsinogen gene) SPINK1 (serine protease inhibitor kazal type 1 gene)
- Accounts for about 2% of pancreatitis
ADD
Infantile haemangioendothelioma
Most common BENIGN tumour
- Can be hugely space occupying in liver causing hepatomegaly.
- Vascular lesion in liver
- Can cause heart failure due to size
- IExpresses type 3 iodothyronine deiodinase which inactivates T4 –> can cause associated hypothyroidism (in large ones)
- Child may have other small multiple cutaneous haemangiomas OR can present with isolated liver haemangioma
IX:
USS with doppler
Abdo CT
Rx:
Typically regress
Propanolol
Embolization if really large
Hepatoblastoma
Most common malignant liver cancer in children
- tends to be <6/12 of age
- Increased risk if preterm or IUGR
- Raised AFP (but note Neonates have raised AFP which slowly declines with age)
- Associated with Beckwidth widerman (also Wilm’s); FAP and congenital retinal pigmentation
- AFP levels are monitored during chemo to look at Rx response
Hepatocellular carcinoma
Less common than hepatoblastoma
AFP high but lower cf hepatoblastoma
Usually associated with underlying liver disease and cirrhosis.
Some liver disease predisposes to HCC even accounting for cirrhosis such as Hepatitis B (and C to less extent), glycogen storage disorder, tyrosinemia and PFIC type 2
Acute liver failure
- Seronegative hepatitis most common cause (Non-A-E hepatitis) and is the most likely to require liver transplant
- In young children metabolic is much higher on the list
- Regardless of age infective is most common cause
- MUST exclude paracetamol toxicity
- Dietary history important (toxic mushrooms, metabolic disease)
- Ammonia levels do NOT reflect level of encephalopathy as may have metabolic disease such as urea cycle defect or organic acidaemia
- Rising bilirubin and normalising transaminases (after high levels) is a bad sign
- Transaminase levels do not predict need for transplant
- Hep A more common cause of ALF than B and C but more likely to self resolve. Hep B more likely to require transplant if ALF. Hep C rarely causes acute liver failure.
- INR is BEST indicator of improvement/deterioration so only correct if symptomatic, transport or invasive procedures
- Liver transplant outcomes are less favourable cf chronic liver failure because the child is more unwell prior to transplant –> sepsis, multisystem organ failure, neurological sx BUT still pretty good
Biliary atresia syndrome
Polysplenia syndrome with abdominal situs inversus, intestinal malrotation, levocardia and intra-abdominal vascular abnormalities, portal vein abnormalities and sometimes congenital heart disease
Kasai procedure
Kasai procedure (portoenterostomy) –> transection of the portis hepatis (liver hilum) with anastamosis of small bowel to the proximal surface to help allow bile drainage
- MUST be done as early as possible (1-2 months) for best success rate (up to 90%)
- However should do even if late (unless liver failure)
- Common complication is ascending cholangitis as small piece of small bowel used as conduit between anastomosis therefore not sterile.
- Ascending cholangitis associated with poor outcome following procedure
- > 70% children with successful kasai still need transplant by age of 2
Secondary sclerosing cholangitis
is a different disease to PSC/ASC
-occurs due to other diseases leading to bile duct
damage eg cystic fibrosis, immunodeficiency(HIV in adults) with secondary biliary infection, haemolysis leading to stone disease etc.
-The commonest biliary pathogen causing SSC
is CRYPTOSPORIDIUM which occurs in immunodeficient people
What are the indications for intestinal transplant in short gut syndrome? (<20cm in ultra short gut)
Intestinal failure associated liver disease (TPN cholestasis) DESPITE optimal lipid TPN strategies (fish oil/SMOF TPN)
AND
Loss of at least 3 vascular central access sites access sites (internal jugulars, subclavians, femorals)
AND
Admissions to PICU requiring ionotropic support
AND
Poor quality of life
Note: GLP-2 Anallogues (Teduglutide) clinical trials underway
- trophic hormone to increase villous heights and serum citrulline levels
- reduces TPN requirements
- SC injection. Once stop, lose effect.
TPN cholestasis
AKA Intestinal failure associated liver disease
- Usually cholestatic liver disease but CAN get non-cholestatic disease with a normal bilirubin
- Can progress to portal hypertension with associated sequelae if not treated (can also occur in non-cholestatic disease!)
Rx:
Add SMOF to TPN (fish oil based lipid)
Familial adenmatous polyposis
- Most common polyposis syndrome
- Caused by germline mutation of APC gene (adenomatosis polyposis gene) on Chromosome 5
- APC is a tumour suppressor gene
- Average age onset polyposis is 16 years so no need to scope until then unless symptomatic
- 100% patients develop colorectal cancer (approx 39 years) unless have a colectomy
- associated with HEPATOBLASTOMA, and to a lesser extent gastric, thyroid, pancreatic, adrenal and rectal cancer
Other syndromes associated with APC are gardiner syndrome and turcot syndrome (see genetics)
Faecal calprotectin
ESR/CRP of the gut
- Present in cytoplasm of neutrophils –> unchanged by bacteria or enzymes
- Neonates have HIGH levels (up to 200)
- Normal <50 micrograms/g
- Non-specific marker of inflammation BUT is a good SCREENING test for IBD (>90%spec and sens)
- Causes of raised CRP:
- -> Inflammation/infection
- ->GI bleed
- -> NSAIDS (therefore need to stop for a few weeks first)
DIOS
- Associated with CF (see resp)
- 15% of kids with CF
- 63% of kids with DIOS presented at borth with meconium ileus
- Aetiology unknown but occurs more with pancreatic insufficiency regardless of adequate enzyme replacement
Main Sx:
RLQ cramping pain
Palpable mass
Reduced stool freq
DDX:
Appendicits
Constipation
RX:
- Fluids
- Laxatives
- Bowel washout
- Prokinetics
- Surgery (rare)
GI manifestations of CF
- DIOS
- Rectal prolapse (20%)
- Increased risk of GI tumours due to lifelong low grade inflammation
- Fibrosing colonopathy
- -> rare
- -> Colonic strictures with mucosal and submucosal fibrosis, and destruction of muscularis mucosa
- -> Associated with high dose enzymatic replacement
- -> can resect if localised
CF associated liver disease
CF associated liver disease:
- can cause cholestatic hepatitis and liver cirrhosis
- Most common cause of CF mortality (except resp)
- Develops before puberty
- Most common presents with hepatic steatosis or focal biliary cirrhosis –> progresses to multilobular over many years (5-10%)
- <2 % present as neonatal cholestasis but IMPORTANT to think of
- Progression to portal HTN
- survival mean 4.5 years post cirrhosis
- Risk factors include Male, pancreatic insufficiency, severe genotype, heterozygous for A1AT def
-RX is liver transplant if end stage liver disease. survival 5 years >90%
Exocrine pancreatic insufficiency
- CF
- Schwachman Diamond (neutropenia from BMD, exocrine insufficiency and skeletal abnormalities. See Haem)
- Pearson syndrome(mitochondrial disease)
- Sideroblastic anaemia
- Exocrine dysfunction
- Progressive pancreatic fibrosis and failure
- Muscle wasting and neurological impairment - Johanson-Blizzard syndrome
- AR, multisystem
- Abnormal development of nose (hypoplasia of nasal alae), scalp, pancreas
- Poor growth, GDD
IX:
-Steatocrit/72 hour faecal fat
Faecal elastase/chymotrysin (note diarrhoea causes false positives)
Hirschsprung’s disease
Familial
- Aganglionic megacolon (arrest of neural migration from prox to distal bowel)
- Short or long segment (15%)
- Most common cause lower intestinal obstruction in neonates
- 1,5000 births
- M:F short segment 4:1; long segment (prox to sigmoid colon) 2:1
- Prematurity is uncommon
Associated disease:
- T21
- Joubert syndrome
- Smith-Lemi-Opitz syndrome
- MENS
- NF
Sx: HNPM Distended abdomen Bilious vomiting or feed intolerance Early onset constipation FTT
Due to increased intraluminal and stasis –> bacteria proliferation –> increased risk enterocolitis (pain, diarrhoea, bowel obstruction) and sepsis
Ix:
Rectal biopsy - aganglionic cells and increased acetylcholinesterase staining
Lactose intolerance
- Lactose –> glucose to galactose by lactase
- Decreased lactase
- Genetically programmed progressive loss of activity of lactase
- occurs at different ages depending on the person in acquired intolerance
- marked racial difference –> close to 100% in S/E asian popn
2 types: 1. congenital -very rare -AR LCT gene on chromosome 2
- Acquired
- natural age related deline in lactase
- can get transient i.e post infectious, coeliac related
- Note that lactase is at the tipis of vili, therefore is lost first in GI infection as other enzymes sit in crypts
Ix:
Normally just trial exclusion but can do breath testing
- rise in H2 post lactose by 10-20ppm is a positive test
-Usually peaks at 2-4 hours
-If earlier peak (1 hour) may reflect rapid bowel transit time, bacterial overgrowth, substrate fermentation bu oral flora
Fructose malabsorption
Three kinds
- (most common)
Defect is either Glut 2 or Glut 5 passive channels
(glut 2 –> glucose and fuctose, Glut 5 –> fructose)
- channels sits in apical membrane of enterocyte - Hereditary fructose intolerance
Rare, AR - Fructose 1-phosphate aldolase deficiency
Metabolism of fructose
Orofacial granulomatosis
Granulomatous inflammation of oral +/- maxillofacial region
- can be in isolation or rare manifestation of crohn’s disease
- initially painless swelling of lips (lower usually) but can progress to fistulating disease
- Can get apthous ulcers in the mouth
Ix for Crohns
Rx:
Topical steroids
Tacrolimus
Cinnamon and Benzoate free diet
Intestinal worms (ascariasis)
A.lumbricoides is most common (round worm) T trichuria (whip worm) Anylostoma duodenale (hook worm)
Complications can occur.
- Intestinal obstruction is the most common complication followed by Bile duct obstruction.
- Important complications to bear in mind (as child’s presenting complaint may be the complication):
- Volvulus
- Hepatic abscess
- Intussusception
Rx:
- Albendazole
- Levamisole
- Mebendazole
- Pyrantel embonate
All 4 have >90% cure rate
Intestinal lymphangectasia
Intestinal lymphangiectasia
◾Congenital actasia of lymphatic system
◾Protein losing enteropathy
◾Leakage of lymph into lumen of bowel
◾Steatorrhea
◾Chronic loss of lymphocytes and Ig - increased risk of infection
◾Findings: oedema, diarrhoea, abdominal distension, chylous effusion, repeated infections
◾Lab: Decreased albumin, decreased IgG levels, Lymphocytopaenia, anaemia, increased faecal fat loss. Hypocalcaemia, hypomagnesaemia à as these are lost as cations in complex with unabsorbed fatty acids
◾Increased faecal alpha antitrypsin
◾Treatment supportive, high protein diet, medium chain TGL, vitamin and Calcium supplements, IV albumin and intragam
◾Complication – intestinal lymphoma of B cell type
