Congenital Disorders of the Respiratory Tract Flashcards
How is a diaphragmatic hernia usually diagnosed?
Antenatally
How does a diaphragmatic hernia usually present?
- Failure to respond to resuscitation
- Respiratory distress
- Displaced apex beat and heart sounds (to the right)
- Poor air entry - left chest
Which side is a diaphragmatic hernia usually located?
Left sided herniation
How is the diagnosis of a diaphragmatic hernia confirmed?
CXR and PFA
How is a diaphragmatic hernia managed?
- Large NG tube and suction applied to prevent distension of the intrathoracic bowel
- Surgical repair when infant stabilised
Alpha-1 antitrypsin deficiency has what type of inheritance pattern?
Autosomal recessive
What is the function of alpha-1 antitrypsin?
Inhibit certain enzymes and protect tissues from enzymes of inflammatory cells
Define alpha-1 antitrypsin deficiency
Abnormal folding of the protease alpha-1 antitrypsin leads to accumulation of the protein in hepatocytes and liver disease in infancy and childhood. Lack of circulating protein leads to emphysema in adulthood.
How does alpha-1 antitrypsin deficiency present?
- Prolonged neonatal jaundice
- Bleeding
- Hepatomegaly, splenomegaly, cirrhosis
How is alpha-1 antitrypsin deficiency diagnosed?
- Estimating level of alpha-1 antitrypsin in plasma
2. Identifying protein phenotype
What advice should be given to patients with alpha-1 antitrypsin deficiency?
Advise to avoid smoking
Define primary ciliary dyskinesia
Congenital abnormality in the structure or function of cilia which leads to impaired mucociliary clearance
Possible consequences of primary ciliary dyskinesia
Severe bronchiectasis
How does primary ciliary dyskinesia present?
- Recurrent productive cough
- Purulent nasal discharge
- Chronic ear infections
- 50% have dextrocardia or situs inversus (Kartagener syndrome)
How is primary ciliary dyskinesia diagnosed?
Examination of the structure and function of cilia of nasal epithelial cells brushed from nose
