Primary ciliary dyskinesia
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Primary ciliary dyskinesia
Cellular biology
Cellular biology
Disorders of cellular biology
Alport syndrome
Ehlers-Danlos syndrome
Marfan syndrome
Osteogenesis imperfecta
Primary ciliary dyskinesia
Vitamin C deficiency
Adrenoleukodystrophy (NORD)
Leukodystrophy
Zellweger spectrum disorders (NORD)
Collagen disorders: Pathology review
Cytoskeleton and elastin disorders: Pathology review
Peroxisomal disorders: Pathology review
Flashcards
Primary ciliary dyskinesia
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Questions
USMLE® Step 1 style questions USMLE
0 of 1 complete
A 15-month-old boy is brought to the pediatric emergency department for evaluation of productive cough and fever. The patient has had multiple prior emergency department visits due to similar symptoms, which resolved with high-dose antibiotic therapy. He was born at 38-weeks gestational age via an uncomplicated vaginal delivery to a 30-year-old woman. Family history is significant for similar symptoms in the patient’s older sister. Temperature is 38.7°C (101.7°F), pulse is 110/min, respirations are 40/min, and blood pressure is 90/50 mmHg. Physical examination reveals an ill-appearing child with mildly enlarged tonsils without erythema or exudates. Bilateral rales and rhonchi are heard on lung auscultation, and the point of maximal impulse is displaced to the right side of the chest. A chest CT shows bilateral hyperinflation of lungs and significant peribronchial thickening. Which of the following best describes the pathophysiology of this patient’s condition?
External References
First Aid
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Bronchiectasis
Kartagener syndrome p. 47, 720
Ectopic pregnancy p. NaN
Kartagener syndrome p. 47
Infertility
Kartagener syndrome p. 47, 720
Kartagener syndrome p. 47, 284
infertility with p. 653
obstructive lung disease p. 694
presentation p. 720
Sinusitis
Kartagener syndrome p. 47, 720
Summary
Primary ciliary dyskinesia (PCD) also called kartagener syndrome or immotile cilia syndrome is a rare genetic disorder characterized by impairment of the action of cilia lining the respiratory tract, Eustachian tube, fallopian tube, as well as in the flagella of sperm cells. This can lead to recurrent respiratory infections, chronic cough, sinusitis, otitis media and infertility. There is no cure for PCD, but treatments can help manage symptoms and prevent complications.