9 - Respiratory 2 Flashcards
What is bronchiectasis and the pathophysiology of this?
Permanent dilation of the bronchi/bronchioles secondary to chronic infection/inflammation
Scarring reduces the number of cilia so decreases mucus clearance and predisposes to further infection
What are the causes of bronchiectasis in children?
- Cystic fibrosis
- Post-infection: e.g TB, Pertusiss
- Immunodeficiency: HIV, agammaglobulinaemia, common variable immune deficiency or IgA/IgG deficiency
- Primary Cilliary Dyskinesia
- Foreign body aspiration
- Congenital Syndromes: Young’s, Kartagener, Yellow Nail Syndrome
What is primary cilliary dyskinesia? (A.K.A Kartagener’s syndrome)
- Autosomal recessive
- Reduced functioning of bronchial cilia
- Problems with mucocilliary clearance so increased susceptibility to infections and bronchiectasis
- Infertility, Sinusitis and Situs Invertus are common symptoms
How is PCD Primary ciliary dyskinesia diagnosed?
- Nasal brushing or Bronchoscopy: examine functioning of cilia
- Treat with antibiotics, physio, high calorie diet
What are the following conditions:
- Young’s Syndrome
- Kartagner Syndrome
- Yellow Nail Syndrome
- Young’s syndrome: Bronchiectasis, Reduced fertility and Rhinosinusitis
- Kartagener: Same as PCD. Bronchiectasis, Situs Invertus, Sinusitis
- Yellow-nail syndrome: pleural effusions, lymphoedema and dystrophic nails. Bronchiectasis occurs in around 40% of patients
How may a child with bronchiectasis present?
- Chronic productive cough
- Large amounts of purulent sputum
- Haemoptysis
- Chest pain
- Wheeze
- Breathlessness on exertion
- Recurrent or persistent infections of the lower respiratory tract
What investigations should you do for children with suspected bronchiectasis?
Step 1: Confirm Diagnosis
- CXR: may be normal or may show bronchial wall thickening or airway dilatation
- HRCT: gold standard
Step 2: Find underlying cause
- Chloride sweat test: must be done to exclude CF, CFTR gene analysis if results borderline
- FBC: assess lymphocyte and neutrophil counts
- Immunoglobulin panel: assess for immunoglobulin deficiency
- Specific antibody levels to vaccinations e.g. pneumococcal or Hib vaccine
- If bronchoscopy is performed a ciliary brush biopsy can be taken.
- HIV test
- Microbiological assessment
- Lung Function tests
What signs are indicative of bronchiectasis on HRCT in children?
- Bronchial wall thickening
- Diameter of bronchus larger than bronchial artery next to it (Signet Ring)
- Visible peripheral bronchi
Different patterns different aetiologies
- Bilateral upper lobe bronchiectasis commoner in CF
- Unilateral upper lobe bronchiectasis commoner post-TB infection
- Focal bronchiectasis (lower lobe) after foreign body inhalation
What may lung function tests show in a child with bronchiectasis?
Mild: Normal
Severe: obstructive or mixed as scarring occurs
What are the management principles in bronchiectasis in children?
- Preventing progression of lung disease
- Symptomatic relief
- Ensure normal growth and development
How is bronchiectasis managed in children?
- Chest physiotherapy: no evidence but taught how to clear mucus, do daily
- Antibiotics for flares: test for pseudomonas and erradicate, also give vaccinations for pneumonia and flu
- Bronchodilators: for wheeze and for before chest physio
- Regular follow up and monitoring: check growth, encourage parents not to smoke
What are some complications of bronchiectasis in children?
- Recurrent infection
- Life-threatening haemoptysis
- Lung abscess
- Pneumothorax
- Poor growth and development
What is cystic fibrosis and the epidemiology of this?
Autosomal recessive multi-system disease with predominantly respiratory symptoms. 1 in 25 are carrier, 1 in 2500 have it
Caused by mutations to CFTR gene on chromosome 7. This encodes a chloride channel.
Most diagnosed at birth due to newborn heel prick screening, others are diagnosed following characteristic presentations (e.g. failure to thrive, recurrent chest infections, steatorrhea)
What is the pathophysiology of the respiratory symptoms in CF?
Dehydration of airway fluid leading to muco-cilliary dysfunction
CFTR channels on the apical surface of epithelial cells. Defects in normal ion transport leads to dehydration and depletion of airway surface liquid so cilia dysfunction
Reduced mucus clearance, airway obstruction and a predisposition to infection. Recurrent infection leads to chronic bronchitis, damage to the bronchi and eventual bronchiectasis
What are some signs in a newborn of CF before heel prick testing is back?
- Meconium Ileus
- Steatorrhea
- Failure to thrive/Slow growth
- Recurrent chest infections with clubbing
why do you get steatorrhoea in children with CF
the thick mucus blocks the pancreatic ducts and hence digestive enzymes cannot reach the small intestine and this leads to malabsorption of fats
how to manage steatorrhoea in CF
Pancreatic Enzyme Replacement Therapy (PERT):
Patients take pancreatic enzyme supplements (e.g., Creon) with meals to aid fat digestion.
High-Calorie, High-Fat Diet:
CF patients often require a higher caloric intake to meet energy needs.
Supplementation:
Fat-soluble vitamins (A, D, E, K) are given to prevent deficiencies.
Regular Monitoring:
Stool frequency, consistency, and growth parameters are monitored to adjust enzyme doses.
What are the respiratory symptoms of CF?
Productive cough and Recurrent chest infections
In childhood Staphylococcus aureus and Haemophilus influenza are commonly isolated
In older age groups colonisation with Pseudomonas aeruginosa becomes increasingly common
Recurrent infections result in bronchiectasis secondary to damage to the bronchial walls
What are some other symptoms of CF not involving the respiratory system?
Pancreatic Disease: Acute/Chronic pancreatitis, CF related Diabetes
GI Disease: Meconium Ileus, Distal intestinal obstruction syndrome, Liver Cirrhosis,Rectal prolapse
Malignancies: Increase risk of large and small bowel, pancreas and biliary tract, Hepatocellular carcinoma
Infertility
Poor growth/failure to thrive
Why do you get distal Distal intestinal obstruction syndrome with cf
Thick, sticky mucus: This causes highly viscous intestinal contents, which are prone to stagnation and impaction, particularly in the distal ileum.
symptoms of distal intestinal obstruction syndrome
Symptoms of DIOS
Abdominal pain, cramping, and distension.
Nausea and vomiting.
Reduced or absent bowel movements.
Palpable mass in the lower right quadrant (due to impaction).
What are some signs on examination of CF?
- Low weight or height on growth charts
- Nasal polyps
- Finger clubbing
- Crackles and wheezes on auscultation
- Abdominal distention
What are some other causes of clubbing in children?
- Hereditary clubbing
- Cyanotic heart disease
- Infective endocarditis
- Cystic fibrosis
- Tuberculosis
- Inflammatory bowel disease
- Liver cirrhosis
How is cystic fibrosis diagnosed?
- Newborn blood spot testing: Looks at immune-reactive trypsin test, need to do sweat test if positive
- Sweat test: Gold standard. Sweat chloride > 60mmol/L is considered positive for CF. 30-59mmol/L is inconclusive (genetic testing indicated) and < 30mmol/L is considered negative
- Genetic testing for CFTR gene: usually for adults, can be performed by amniocentesis or chorionic villous sampling
blood spot test
Sickle cell disease (SCD): Can cause red blood cells to change shape and become stuck in blood vessels, which can lead to pain, infection, or death
Cystic fibrosis (CF): A serious health condition
Congenital hypothyroidism (CHT): A rare condition where babies don’t produce enough of the hormone thyroxine, which is needed for healthy development
Phenylketonuria (PKU): A serious health condition
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD): A serious health condition
Maple syrup urine disease (MSUD): A serious health condition
Isovaleric acidaemia (IVA): A serious health condition
Glutaric aciduria type 1 (GA1): A serious health condition
Homocystinuria (HCU): A serious health condition