Gastroenterology Flashcards
Cystic fibrosis predominantly affects which ethnicity?
Caucasian
How is cystic fibrosis inherited?
Autosomal recessive
Which gene is affected in cystic fibrosis?
CFTR (cystic fibrosis transmembrane conductance regulator)
What is meconium ileus?
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
What is the primary screening test for CF?
Immunoreactive trypsinogen (IRT; elevated) on a heel-prick blood
Why is immunoreactive trypsinogen elevated in CF?
IRT has not been converted to its active form due to impaired release of pancreatic enzymes
What test is used to confirm CF after abnormal IRT?
DNA assay to identify common CFTR mutations
What is the diagnostic criteria for CF?
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
What is the most important factor in CF prognosis?
Severity of pulmonary disease
Chronic respiratory infections and mucus plugging → irreversible bronchiectasis → progressive respiratory failure → death
Is physiological neonatal jaundice conjugated or unconjugated?
Unconjugated
When does physiological neonatal jaundice occur?
Between days 3-8 of life
Give 3 causes for physiological neonatal jaundice
- HbF replaced with HbA (haemolysis)
- Immature hepatic conjugation and elimation pathways → impaired metabolism
- Less bacteria in the GIT → less conversion of bilirubin to urobilin → less excretion of bilirubin
Where is the vomiting (emetic centre)?
In the medulla
Which autonomic nerve mediates emesis?
Vagus
What electrolyte changes are seen in children with pyloric stenosis?
Metabolic acidosis (low H+, high HCO3- to compensate)
Low Cl-
Low K+
What surgical procedure is done for pyloric stenosis?
Pyloromyotomy
Incision is made through the pyloric sphincter and the lumen can bulge through this opening
What is the feed test in the context of suspected pyloric stenosis?
Shortly after eating, peristalsis may be visible
Which type of inguinal hernia involves protrusion of the bowel through the internal inguinal ring, external inguinal ring and into the scrotum?
Indirect inguinal hernia
Which type of inguinal hernia herniates lateral to the inferior epigastric artery?
Indirect
Which type of inguinal hernia herniates medial to the inferior epigastric artery?
Direct
Which type of inguinal hernia protrudes through the inguinal (Hesselbach’s) triangle?
Direct
Which type of inguinal hernia involves herniation through the external (superficial) inguinal ring only?
Direct
What is the best method of assessing dehydration?
% loss of body weight
What is the role of anti-diarrhoeal drugs in infants and children with gastroenteritis?
NO role - do not use
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
When is the peak incidence of intussusception?
3-12 months
What is this?
Target sign of intussusception
From what age/weight can ondansetron be used?
6 months/8kg
Acute abdominal pain with legs drawn up and with asymptomatic intervals is characteristic of which condition?
Intussusception
What is perferred treatment of intussusception?
Air enema
What investigations should be performed for intussusception?
- AXR (exclude perforation and obstruction)
- US
- Air enema (diagnostic and therapeutic)
What pathogen is associated with reptiles?
Salmonella
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