Primary ciliary dyskinesia

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Primary ciliary dyskinesia

Genetics

Genetic disorders

Achondroplasia
Alagille syndrome (NORD)
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Polycystic kidney disease
Treacher Collins syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Alpha-thalassemia
Beta-thalassemia
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Hemochromatosis
Krabbe disease
Leukodystrophy
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Phenylketonuria (NORD)
Polycystic kidney disease
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Wilson disease
Cri du chat syndrome
Williams syndrome
Angelman syndrome
Prader-Willi syndrome
Beckwith-Wiedemann syndrome
Mitochondrial myopathy
Klinefelter syndrome
Turner syndrome
Fragile X syndrome
Friedreich ataxia
Huntington disease
Myotonic dystrophy
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Alport syndrome
Fragile X syndrome
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Lesch-Nyhan syndrome
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
X-linked agammaglobulinemia
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review

Assessments

Flashcards

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USMLE® Step 1 questions

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High Yield Notes

7 pages

Flashcards

Primary ciliary dyskinesia

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Questions

USMLE® Step 1 style questions USMLE

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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

2024

2023

2022

2021

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.