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Primary ciliary dyskinesia





Population genetics
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Primary ciliary dyskinesia
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Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review

Primary ciliary dyskinesia


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High Yield Notes
7 pages

Primary ciliary dyskinesia

14 flashcards

USMLE® Step 1 style questions USMLE

1 questions

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

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.