Primary ciliary dyskinesia genetics
Homozygous mutation in DNAH11
Primary ciliary dyskinesia symptoms
Situs inversis totalis, chronic sinusitis, bronchiectasis
Kartagener syndrome
Infant or toddler with nonproductive cough, expiratory wheeze, and decreased breath sounds
Foreign body aspiration
Symptoms/diagnosis of swallowing dysfunction
Recurrent wheezing in an infant that increases with feeding and neck flexion
Vascular ring or other things compressing the trachea
- Can also have stridor and/or dyspnea during feeding
Hemoptysis, iron deficiency anemia, and diffuse pulmonary infiltrates
Hemosiderosis
Treatment for congenital malformations of the lung
Surgical removal
- Present with recurrent respiratory symptoms or can be incidental finding on CXR
Causes of clubbing
Technical term: hypertrophic pulmonary osteoarthropathy
Lab definitions of respiratory failure
- PaO2 < 50
CF sweat test diagnostic values
< 30 is negative
30-60 is intermediate
> 60 is positive
Nasal polyps, rectal prolapse, meconium ileus –> what test do these people need?
Sweat test to rule out CF
Pleural fluid characteristics associated with empyema
Definition of pulsus paradoxus
Difference in BP of > 20 mmHg between inspiration and expiration –> this suggests pulmonary or cardiac issues
Signs of chronic hypoxemia
Symptoms of hypercarbia vs hypoxia
- Hypercarbia: flushing, agitation, headaches –> cerebral vasodilation
Indications for home apnea monitor
Symptoms of hypoxia
Cyanosis, depressed sensorium
Symptoms of hypercarbia
Flushing, agitation, headaches - due to elevated CO2 leading to cerebral vasodilation
Symptoms of chronic hypoxemia
What does pulse ox measure
Carbon monoxide poisoning and pulse ox
Definition of cyanosis
Cause and symptoms of methemoglobinemia