Gastroenterology Flashcards
Histology changes in coeliac
Vilnius atrophy
Mononuclear infiltrate lamina propria
Crypt hyperplasia
90-95% coeliac HLA what
DQ2
Advice re coeliac and starting solids
Weaning onto a gluten containing diet 5-7 months with bf delays onset but doesn’t alter incidence
Risk factors for coeliac and percent
First degree relative 4-11% (normal risk 1-2%)
Downs (7-19%)
Turners
Williams
IgA def, DM1 10% and highest risk apart from relative and downs, JIA, thyroid
Metabolic causes of pancreatitis
Hyperlipid Increased calcium Glycogen storage Organic acidaemia Burn
Failure to inhibit activation in which enzyme most commonly leads to familial pancreatitis
Trypsinogen (75%)
How much gut req to live
15cm with ileocaecal valve and 40 without
Stool osmolality
(Na + k) x 2
Osmotic diarrhoea (gap >50) and secretory diarrhoea (gap <50) causes
Osmotic: infectious, disaccharide def, laxative abuse, impaired absorption
Secretory: toxic E. coli, cholera, tumour, enteropathy
Low alk phos causes
Wilson and zinc def
ALT and AST also raised in
Muscle necrosis (check CK)
Treatment for wilsons
Copper chelation (penicillamine and pyridoxine)
Absorption of Fe and amino acids
Duodenum
Folate absorbed in
Jejunum
Galactose and fructose transporters
Galactose SLGT1
Fructose GLUT 5
Sucrose if from
Fructose and glucose
Most sensitive and specific coeliac test
Anti TTG IgA
(hLADQ2/8 99% of CD)
Eosinophilia oesophagitis presentation
Impacted food (obstructive dysphagia)
Meckles scan
tc99 scan
Hirsprungs incidence
1/5000
More boys
Percent of UC With primary sclerosing cholangitis
5%
Pyoderma gangreosum also assoc
Gilbert’s percentage
5-10%
Sucrose isomaltase def
Presents at 6m when sucrose added
Mx: sucrose free diet, enzyme replacement
Melanesia coli occurs with
Laxative abuse
100ml breast milk contains ?kcal
67 (280kj)
Caloric value of glucose
3.4kcal/g
Fat and CHO and protein kcal
Cat 10kcal/g
CHO and protein 4kcal/g
Triangular cord sign on USS
Biliary atresia
Crohns treatment
Enteral therapy (Crohn’s) 5 asa’s Prednisone Azathioprine Methotrexate TNF monocloncal antibodies
Two familial issues with what in familial pancreatitis
SPINK1
Trypsinogen activation within the pancreas is inhibited
by pancreatic secretory inhibitor (PSTI or SPINK1)
PRSS1
Multiple isoforms of trypsinogen – missense mutation
lead to premature activation within pancreas
Short gut causes renal stones by
Calcium binds to malabsorbed fat, allows an increased absorption of oxalate
Pill induced oesophagitis commonly from…
Tetracycline, Doxycycline
NSAIDs, aspirin
Potassium
AST:ALT ratio >4 highly suggestive
And low ALP
Wilson’s disease
Confirmed by keiser flesher ring
ATP7B (multiple mutations though)
ALP low because raised copper displaces zinc in the ALP enzyme and reduces its concentration
Total protein raised in what??
Autoimmune disease
Assoc with autoimmune hepatitis
UC > C
Beading on cholangiogram suggests
Sclerosing cholangitis (cryptosporidium most common cause in immunosuppressive)
AST and ALT also raised in
Muscle damage
ALT up for longer and longer half life but more delayed and more liver specific
Antibiotics for campylobacter, shigella, salmonella, yersinia
Campylobacter- erythromycin
Salmonella - cotrimox
Shigella -
Yersinia - doxy or cotrimox
Baby with jaundice, panniculitis (hard skin with painful lumps) or SOB exertion and lung affected
Signs and symptoms of alpha one antitrypsin def
Furrowing and white specs on gastroscopy indicate
(or ringed occasionally)
Eosinophilic oesophagitis
Folate absorbed in
Jejunum
Fat globules vs fat crystals causes
Globules fat not split by lipase
Crystals not absorbed
Leg swelling and diarrhoea (protein losing enteropathy)
Nausea, vomiting, fatty stools, and abdominal pain may also develop.
Children have delayed growth.
Intestinal Lymphangiectasia
Leaky lymph into small intestines
Need lymph to transport long chain Fa in micelles therefore have fat globules in stool
Acidic stool and reducing substances present indicate what?
Carbohydrate malabsorption (c.diff or cryptosporidium)
Three monosaccharides
Glucose, galactose, fructose
Sucrose =
Glucose and fructose
Lactose =
Galactose and glucose
Starch is long chains of…
Maltose (Glucose and glucose)
Glucose galactose malabsorption from
SGLT1 transporter
Sequelae of cleft
Recurrent otitis media and hearing loss are frequent with cleft palate.
Malposition of the teeth.
Speech development
Coeliac incidence
1%
T cell response to gliadin
Oats may be contaminated
Related also to Williams and tuners
Severe fat malabsorption from birth in
Abetalipoproteinemia
Low elastase in stool indicates
Exocrine pancreas insufficiency (most common CF)
Pearson syndrome (ePancreas-marrow failure)
Schwachman-diamond
Recurrent pancreatitis or chronic in child think
Genetic: cationic trypsinogen gene (PRSS1), chymotrypsin C gene
(CTRC), CF gene (CFTR), trypsin inhibitor gene (SPINK1).
Differential of jaundice: 4 syndromes
Conjugated and asymptomatic: rotor and dubin-johnson
Unconjugated and asymptomatic: 5-10% population Gilbert’s
Unconjugated and severe - type 1 Crigler-najjar (NO UGT1A1 activity) diagnosed by measuring glucuronyl transferase activity in liver from biopsy (liver normal)
Two types autoimmune hepatitis
Type 1: anti smooth muscle, ANA.
Type 2: liver kidney microsomal antibodies. Tend to be more refractory
to treatment and need long term immunosuppression.
Night blindness vitamin deficient
A
What can cause exacerbated SE azathioprine
Low or no TPMT
thiopurine methyltransferase catabolises 6MP to 6MMP, activity is genetically regulated
Three syndromes assoc with hirsprungs
Odines curse (autonomic dysfunction)
Wardenburg
Downs
Erythema nodosum is
Redness overlying panniculitis (inflame don’t adipose under skin)
Jaundice
UPD deficient and low in?
Low in Gilbert’s
Absent/low in crigler-najjar (can try phenobarb)
Gloss it is and chelosis related to
B12 and B2 (riboflavin)
Pellagra (dermatitis, diarrhoea) due to?
B3 niacin deficiency
Thiamine deficiency causes
Heart failure from B1 deficiency
Northern vs southern blow
Northern looks for RNA and southern DNA
Liver failure from tyrosinaemia type 1 or galactosemia how to differentiate
Reducing substances urine and RBC galactose 1 phosphate uridyl transferase in galactosemia
Plasma a.a in tyrosinaemia and urine succinylacetone
B12 also called
Cobalamin
Pancreatic dysfunction from what in schwachman diamond syndrome
Acinar cell hypoppasia
Three common causes acute pancreatitis in children
Idiopathic
Systemic disease such as HUS or vasculitis autoimmune
Trauma (blunt or child abuse)
Drugs (valproate L-Aapariginase and azathioprine)
Chronic pancreatitis cause in child
Hereditary from PRSS1 mutation (trypsin autoactivation)
CTFR
chymotrypsinC gene
SPINK1 (trypsin activity inadequately controlled)
Focal biliary cirrhosis from
CF
Portal HTN value
> 10 mmHg
Spontaneous bacterial peritonitis organisms
E. coli
Klebsiella
Strep
Enterococci
Drug induced pancreatitis causes
V. FAT SHEEP
Valproate verapamil
Frusemide Azathiorone asparginase Tetracycline Statin sulfonamides Hydrochlorthiazide Estrogen Pentamidine
R side aortic arch and difficulty swallowing has
Vascular ring
Diabetic with bowel obstruction and H2 breath test positive caused by?
Bacterial overgrowth
Protein req per day per kg
0.75g/kg/day
Water absorbed intestines due to
Diffusion (coupled with glu and a.a.)
High volume secretory diarrhoea can be due to
Cholera or other toxins
cholera upregulating chloride channel
Most common s.i atresia
Ileal
Liver synthesises all factors except
8