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Primary ciliary dyskinesia

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Genetics

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Population genetics
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
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Alagille syndrome (NORD)
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Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
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Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review

Assessments
Primary ciliary dyskinesia

Flashcards

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Questions

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High Yield Notes
7 pages
Flashcards

Primary ciliary dyskinesia

14 flashcards
Questions

USMLE® Step 1 style questions USMLE

1 questions
Preview

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
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.