Primary ciliary dyskinesia

3,232views

Videos

Notes

Primary ciliary dyskinesia

Cellular biology

Cellular biology

Cellular structure and function

Cell membrane

Selective permeability of the cell membrane

Extracellular matrix

Cell-cell junctions

Endocytosis and exocytosis

Osmosis

Resting membrane potential

Nernst equation

Cytoskeleton and intracellular motility

Cell signaling pathways

Disorders of cellular biology

Leukodystrophy

Adrenoleukodystrophy (NORD)

Zellweger spectrum disorders (NORD)

Primary ciliary dyskinesia

Alport syndrome

Ehlers-Danlos syndrome

Osteogenesis imperfecta

Marfan syndrome

Vitamin C deficiency

Peroxisomal disorders: Pathology review

Assessments

Primary ciliary dyskinesia

Flashcards

0 / 14 complete

USMLE® Step 1 questions

0 / 1 complete

High Yield Notes

7 pages

Flashcards

Primary ciliary dyskinesia

of complete

Questions

USMLE® Step 1 style questions USMLE

of 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

2022

2021

2020

2019

2018

2017

2016

Bronchiectasis

Kartagener syndrome p. 47, 714

Ectopic pregnancy p. NaN

Kartagener syndrome p. 47

Infertility

Kartagener syndrome p. 47, 714

Kartagener syndrome p. 47, 286

infertility with p. 659

obstructive lung disease p. 700

presentation p. 714

Sinusitis

Kartagener syndrome p. 47, 714

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.

Elsevier

Copyright © 2023 Elsevier, except certain content provided by third parties

Cookies are used by this site.

USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.

RELX