Gastroenterology and Nutrition Flashcards
What is the nutritional intake required for full term infants?
100kcal/kg/day to grow
What is. the nutritional intake required for preterm infants?
140kcal/kg/day to grow
What are the main components of breast milk?
Carbohydrate - Lactulose
Protein - alpha-lactalbumin
Fat - Arachidonic acids (ARA) and docosahexaenoic acid (DHA)
What are the absolute contraindications to breast feeding?
HIV
Acute TB infection - until completion of approx. 2 weeks of appropriate Tx
Infants with classic galactosaemia
What is vitamin B1 also known as?
Thiamine
What is vitamin B1 (Thiamine) found in?
Yeast, legumes, meat, milk and vegetables
What are the symptoms of thiamine (vitamin B1) deficiency in children?
Infantile Beriberi disease
- Absence of deep tendon reflexes
- Congestive heart failure
- Neuritis
- Hoarseness/ aphonia
What are the symptoms of thiamine (vitamin B1) deficiency in adults?
Wernicke Korsakoff syndrome
- Encephalopathy
- Confusion
- Ataxia
- Nystagmus
What is vitamin B2 also known as?
Riboflavin
What are the symptoms of vitamin B2 (riboflavin) deficiency?
Angular stomatitis
Glossitis
Keratitis
Photophobia
What are the symptoms of Vitamin B3 (niacin) deficiency?
Pellagra
- Dermatitis
- Diarrhoea
- Dementia
What is the vitamin B3 also known as?
Niacin
What is vitamin B6 also known as?
Pyridoxine
What are the symptoms of vitamin B6 (pyridoxine) deficiency?
Microcytic anaemia
Refarctory seizures in infancy
Sensory neuropathy
Dermatitis
What deficiency are vegans most at risk of?
Vitamin B12 (cobalamin) deficiency
What is vitamin B12 also known as?
Cobalamin
What are the common causes of vitamin B12 deficiency?
Removal of the ilium
Crohns disease
Strict vegans
Pernicious anaemia
Breast fed infants who are exclusively breast fed to a mother who is B12 deficient
What are the clinical features of vitamin B12 deficiency?
Megaloblastic anaemia
Paraesthesia
Vitiligo
Fatigue
Hypersegmentation of neutrophils
What are the common causes of folic acid deficiency?
Goat milk intake
Crohns disease
Sickle cell anaemia
Malignancy
Drugs - phenytoin + methotrexate
What are the symptoms of folic acid deficiency?
Megaloblastic anaemia
Hypersegmentation of the neutrophils
Glossitis
Growth retardation
When treating folate deficiency, which other vitamin is it important to have first replaced?
Vitamin B12
What are the clinical symptoms of vitamin C deficiency?
Gingivitis
Purpura
Poor wound healing
Bleeding into joints and under skin
What are the fat soluble vitamins?
A, D, E, K
What are the two requirements for absorption of fat soluble vitamins?
Surface area - i.e patients with short bowel syndrome may struggle to absorb fat soluble vitamins
Enzymes - deficiency of pancreatic enzymes or bile salts can make fat soluble vitamins unable to absorb
What are the main symptoms of vitamin A deficiency?
Nyctalopia - i.e. poor night vision - usually the first symptom
What is the alternative name for vitamin E?
Tocopherol
How does vitamin E deficiency present?
Hyporeflexia/ areflexia
Ataxia
Loss of proprioception/ vibratory sense
What are the endoscopic features of coeliac disease?
- Subtotal or complete villous atrophy
- Crypt hypertrophy
- Intraepithelial lymphocytosis
- Lamina propria plasma cell infiltrate
What is the most common type of tracheo-eosophageal fistula?
Type C (distal TOF with oesophageal atresia)
What is the difference between the cell wall of a gram positive organism vs a gran negative organism?
Gram positive organisms lack lipopolysaccharides
Which conditions is HLA-B8 positive in?
Coeliac disease
Hodgkins lymphoma
Graves disease
Chronic hepatitis
Which condition is HLA-A3 positive in?
Myasthenia Gravis
Which condition is HLA-DRB positive in?
Ulcerative Colitis
Which condition is HLA-B27 positive in?
Ankylosing Spondylitis
Psoriatic arthritis
Juvenile arthritis
Which condition is HLA-DR4 positive in?
T1DM
Rheumatoid arthritis
Pemphigus Vulgaris
What are the blood findings in pyloric stenosis?
Hypochloraemic, hypokalaemic metabolic alkalosis
What are the symptoms of zinc deficiency?
FTT
Alopecia
Diarrhoea
Dermatitis
Frequent infections - due to T-cell dysfunction
Loss of taste
What is acrodermatitis enteropathica?
Autosomal recessive defect in zinc transport (very rare)
Present after weaning from breast feeding
Presents with aural dermatitis - dermatitis around the mouth and anus
+ alopecia
What are the symptoms of copper deficiency?
Flaring of long bone metaphysis
Microcytic anaemia
Perioesteal elevations
Fractures
What is Menkes Kinky Hair Syndrome?
X-linked recessive defect in copper transport ATPase
Symptoms:
- Growth retardation
- Kinky, friable, colourless hair
- Cerebellar degeneration
- Early death if not treated in the first 3 years
What findings will be seen on the bloods in menkes kinky hair syndrome?
Low serum copper
Low serum ceruloplasmin
What are the symptoms of biotin deficiency?
Alopecia
Dermatitis
Hypotonia
Hyperesthesia
What is carotenemia?
Caused by the excessive intake of yellow vegetables (e.g. carrots) |
Presents with yellow skin and nose, normal coloured sclera
Mx - reassurance
Describe the pathophysiology of refeeding syndrome?
Commence sudden feeding which increases insulin and increases glycogen, fat and protein synthesis
This synthesis depletes the phosphate, Mg2+ and K+ stores which are already depleted due to malnutrition
The liver then makes carbohydrates which consumes ATP in the red cells which causes cellular dysfunction leading to hypoxia of organs and hence organ failure
Which protein is elevated in acute appendicitis?
Serum amyloid A
When does volvulus typically present?
Before the first year of life
However can occur at any time
What are the symptoms of volvulus?
Pain
Vomiting - bile stained
Abdominal distension
Rectal bleeding is a late sign - due to poor vascular supply to the bowel
What are the investigations for volvulus?
Upper GI with contrast - primary test
What is the most common site of intussuception?
Junction of the ileum and colon (where the ileum is pulled into the colon)
What is the clinical presentation of intussuception?
Abdominal pain - periumbilical region, right lower quadrant
Lethargy is out of proportion to abdominal pain
Vomiting (can be bilious)
Pallor
Red currant jelly stool - late presentation
Sausage shaped mass may be palpable
How is intussuception diagnosed?
USS - test of choice
Air contrast enema
What sign is seen on USS in intusseception?
Doughnut sign/ target lesion on USS
What is the most common cause of acute pancreatitis in children?
Abdominal trauma - blunt trauma e.g handbar injuries
What is the most common type of TOF?
Oesophageal atresia with distal tracheoesophageal fistula
What is the rarest type of TOF (which is commonly missed)?
H type of TOF
Can pass an NG tube but there is a connection between the oesophagus and the trachea - tends to present later in life with wheeze/ pneumonia
What is Sandifier syndrome?
Arching of the back secondary to GORD - can be mistaken for a seizure
How long should a PPI be used for in GORD to assess if it has worked?
4 weeks
What are the side effects of metoclopromide?
Dystonic reactions
Lethargy and irritability
Gynaecomastia
Permanent tardive dyskinesia
What effect can erythromycin have on cardiac function?
Prolonged QT interval
What is eosinophilic oesophagitis?
Oesophageal epithelium is infiltrated with eosinophils
What are the symptoms of eosinophilic oesophagitis?
Vomiting
Chest pain
Epigastric pain
Dysphagia
Food impaction - stricture - EE should be suspected in adolescents with a new onset of food impaction
Ineffective anti-reflexu therapy
How is EE diagnosed?
Endoscopy is the mainstay of diagnosis
- Peripheral eosinophilia
- Elevated IgE
What is the treatment of EE?
Elimination diet
Inhaled steroids and montelukast
Repeat endoscopies are necessary to assess improvement
If left untreated - can lead to stricture and food impaction
What are the common sites of foreign body getting lodged in the oesophagus?
Upper oesophageal sphincter below cricopharynxgeus (70%)
Mid-oesophagus (20%)
Superior to the diaphragm at the lower oesophageal sphincter (10%)
What are the diagnostic clues of vomiting?
Projectile - pyloric stenosis
Undigested food - achalasia
Bile stained - volvulus or intussuception
Adolescent - drugs, bulimia, pregnancy
What are the treatments for cyclical vomiting?
Hydration
Ondansetron
Sumatriptan - can abort episode of cyclic vomiting in children and adults
What is the gold standard test for peptic ulcer disease?
Upper GI endoscopy with biopsy
What is the treatment of peptic ulcer disease?
PPI - omeprazole (1 month)
2x antibiotics (14 days)
- Amox + clari
- Metro + clari
- Amox + metro
Which site is most commonly affected by H. pylori?
Lesser curvature of the stomach
What follow up is required after H. Pylori eradication therapy?
Triple therapy for 2 weeks
Then PPI only for further 2 weeks
The 2 weeks no medications
Then stool test or urea breath test
H. pylori testing needs to be 4 weeks post abx and 2 weeks post PPI
What is Zollinger-Ellison syndrome?
Gastrin secreting tumour of the pancreas which stimulates the acid secreting cells and causes GI mucous ulceration
What is the Ix for Zollinger-Ellison syndrome?
Fasting serum gastrin levels - elevated
Serum Ca for MEN1 syndrome
What is the clinical presentation of pyloric stenosis?
Non-bilious vomiting
- Immediately after food/ always hungry
Olive shaped mass in RUQ
What is the double bubble sign indicative of on XR?
Duodenal atresia
What are the conditions associated with duodenal atresia?
Down syndrome (20-30%)
What are the clinical features of duodenal atresia?
Bilious vomiting (in the first day of life)
No abdominal distension
Jaundice
History of polyhydramnios
What is superior mesentery artery syndrome?
Compression of the duodenum after rapid weight loss. There is loss of the mesenteric far mass which then causes collapse of the SMA on the duodenum compressing it between the SMA anteriorly and the aorta posteriorly
Which conditions is Hirschsprungs disease associated with?
Down syndrome
Smith-Lemli-Optiz syndrome
Waardenburg syndrome
Which conditions should be considered if meconium is not passed in the first 48 hours of life?
Cystic fibrosis
Meconium ileus
Hirschsprung disease
What is the pathophysiology of Hirschsprungs disease?
Absent ganglion cells in the distal bowel due to failure of migration in neuroblasts from proximal to distal bowel
What is the screening criteria for colon cancer in patients with ulcerative colitis?
If patients have UC for >10 years then they should be screened with colonoscopy and biopsy every 1-2 years
Which conditions are associated with ulcerative colitis?
Iron deficiency anaemia
Pyoderma gangrenosum
Sclerosing cholangitis
Chronic active hepatitis
Ankylosing spondylitis
Folate deficiency (2ry to sulfadiazine)
What is the area most commonly affected by crohns disease?
Terminal ileum
What are the extra-intestinal manifestations of Crohns disease?
Oral ulcers
Peripheral arthritis
Erythema nodosum
Which serological markers are affected in IBD?
ASCA - elevated in 40-56% of cases of Crohn’s disease
ANCA - elevated in 60-80% of cases of UC
Which conditions are associated with Coeliac disease?
T1DM
Down syndrome
Thyroid disease
Turners syndrome
Williams syndrome
Selective IgA deficiency
What are the extra-intestinal manifestations of Coeliac disease?
Muscle wasting + loss of muscular power
Hypotonia
Dermatitis Herpetiformis - blistering of the skin behind knees and buttocks
Dental enamel defects
Short stature
Delayed puberty
Osteoporosis
Persistent iron deficiency anaemia
What investigations look for Coeliac disease?
Anti-TTG - most sensitive and specific
Antiendomysial IgA - harder to perform
NB: both the above tests may be negative if patient has IgA deficiency
What histological results would you see in Coeliac disease?
Villus blunting/ atrophy
Crypt hyperplasia
Intra-epithelial lymphocytosis
Lamina propria inflammation
Reduced surface area therefore these children have malabsorption
Which gene is affected in cystic fibrosis?
The CFTR gene on chromosome 7
What is the primary function of the CFTR gene?
Namely it is a chloride ion channel but it also inhibits the epithelial sodium channel
What are the symptoms of fat soluble vitamin deficiency which can present in Cystic fibrosis?
Vitamin A deficiency - night blindness, follicular hyperkeratosis
Vitamin D deficiency - Osteopenia, rickets
Vitamin E deficiency - progressive neurologic deterioration, ataxia, ophthalmoplegia
What is Schwachmann-Diamond SYndrome?
The second most common cause of pancreatic insufficiency (2nd to CF)
Autosomal recessive
Triad of:
- Pancreatic failure
- Primarily cyclic neutropenia
- Skeletal abnormalities
What are the histological findings in UC?
Mucosal and submucosal inflammation
Goblet cell depletion
Crypt abscesses
No granuloma formation
How is proctitis or left sided colitis treated in UC?
Topical mesalazine
How is induction of remission achieved in mild/ left sided colitis in UC?
5-ASAs e.g. sulphasalazine or mesalazine
Oral corticosteroids if 5-ASAs ineffective
How is induction of remission achieved in moderate or severe colitis in UC?
Oral prednisolone
How is induction of remission achieved in severe UC or toxic megacolon?
IV corticosteroids
What is maintenance therapy in UC?
Oral mesalazine or oral sulphasalazine
Second line - azathioprine/ 6-mercaptopurine in cases of relapse within 6 months or steroid dependance
What are the histological findings in Crohns disease?
Transmural inflammation
Multiple lymphoid aggregates
Granulomas
What XR findings might you see in Crohns disease?
Rose-thorn ulcers
How is induction of remission achieved in Crohn’s disease?
1st line - Elemental diet (broken down protein) or polymeric diet (whole protein)
2nd line - Corticosteroids in severe disease, isolated colitis or failure to respond to elemental diet - oral prednisolone or IV hydrocortisone
What medications are used for maintenance therapy in Crohn’s disease?
Azathioprine or 6-mercaptopurine
SE: Pancreatitis, myelosuppression and hepatitis
What are the risk factors for pyloric stenosis?
Male sex
First born child
Smoking during pregnancy
Prematurity
Being bottle fed
Neonatal exposure to macrolides
What is the cause of abdominal pain in HSP?
Intussuception - diagnosed using USS
What hormone is produced from the acinar cells in the pancreas?
Amylase
What hormone is produced from the alpha cells in the pancreas?
Glucagon
What hormone is produced from the beta cells in the pancreas?
Insulin
What hormone is produced from the delta cells in the pancreas?
Somatostatin
Where is ghrelin (hunger hormone) mostly produced from?
Stomach
Functions of ghrelin - stimulate appetite and promote fat storage
Where is leptin primarily produced?
Adipose tissue
Leptin functions to stimulate the hypothalamus to produce melanocyte-stimulating hormone and corticotrophin releasing hormone to reduce appetite
What is the pathophysiology of malrotation?
During fatal development the foregut, midgut and handout herniate out of the abdominal wall and rotate 270 degrees anticlockwise around the superior mesenteric vessels
The bowel then returns to the abdominal cavity with the duodenal flexure fixed to the left of the midline
Malrotation occurs due to a lack of 270 degree rotation of the midgut
Volvulus occurs when the abnormal rotation or fixation causes an obstruction
What is the pathophysiology of IgE mediated cows milk protein allergy?
This is a type 1 hypersensitivity reaction - CD4 TH2 cells stimulate B cells to produce IgE antibodies against the protein (casein and whey) in cows milk
This triggers the release of histamine and other inflammatory mediators such as cytokines from mast cells and basophils
What is the pathophysiology of non-IgE mediated cows milk protein allergy?
Non IgE mediated reactions involve T cell activation against the proteins in cows milk
Why does diarrhoea occur in cows milk protein allergy?
The persistent presence of cows milk causes chronic inflammation and damage to the mucosal layer which in turn causes decreased fluid absorption
How is the severity of GORD assessed?
pH monitoring - defined as a pH of <4 for greater than 15 seconds
The percentage of time spent with a pH <4 is the single best indicator of severity in GORD
5-10% - mild disease
10-20% - moderate disease
20-30% - severe disease
What is the shape of H. Pylori?
Gram negative bacillus
Which substance increases gastric acid secretion?
Acetylcholine
Gastrin - secreted from G-cells
Which substance reduces gastric acid secretion?
Secretin - secreted from S-cells
Cholecystokinin - secreted from entero-endocrine cells
What is the role of somatostatin?
Inhibits release of gastrin therefore reducing gastric acid secretion
Why does vomiting occur in intussuception?
It occurs when over distension causes the afferent vagal nerve fibres to stimulate the vomiting centre located in the medulla
Which conditions does VACTERL consist of?
Vertebral anomalies
Anorectal malformation
Cardiac defects
Tracheo-oesophageal fistula
Renal anomalies
Limb abnormalities
What is the most common type of tracheoesophageal fistula?
Type C - proximal oesophageal atresia with distal oesophageal fistula
What is the function of motilin?
Stimulates gut motility
What is the function of vasoactive intestinal peptide?
Decreases gut motility
How is Wilsons disease diagnosed?
Low serum caruloplasmin
Presence of Kayser-Fleischer rings around the iris
What are the key features of toddlers diarrhoea?
> 4 loose stools/ day but otherwise well
Stools become more watery throughout the day
Undigested food may be present
