Genetic Diseases

Question 1

Kartagener Syndrome (primary ciliary dyskinesia)

Answer 1

• recurrent sinusitis, bronchopneumonia, bronchiectasis
• dextrocardia
• recurrent otitis media
• infertility
• hypogonadism
• diagnosis with nasal nitric oxide
• video of nasal ciliary
• DNAH5 or DNAI1 mutations

Question 2

Hereditary hemorrhagic telangiectasia

Answer 2

• accounts for 95% of pulmonary AVMs
• gene mutations in ENG (encodes endoglin) and ACVRL1 (activin receptor like kinase 1)
• hemorrhage is rare
• CVA and cerebral abscess are common
• embolization recommended for pulmonary AVMs - even in asymptomatic
• liver AVMs treated with bevacizumab