Saranya Sethuraman Case 10/22/13

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Question
What is the clinical diagnosis?

Student Answer
Primary Ciliary Dysgenesis (50% with situs inversus) Kartageners syndrome: situs inversus, sinuitis, bronchiectasis (scarred & widened airways)

What are the clinical manifestations of PCD?

chronic infection/pain in ear, nose, paranasal sinuses; male infertility; hydrocephalus; chronic cough; recurrent atelectasis/pneumonia - all problems in areas where there are cilia but these cilia are nonfunctional also anosmia, halitosis affected cells are in ependymal cells (ventricles of brain), fallopian tubes, spermatozoan flagella, pseudostratified columnar epithelium

What is the pathophysiology of PCD?

defects in the dynein arm cause abnormal/absent ciliary movements causing less clearance of pathogens/debris by cilia - it also interferes with the ciliary beat pattern so sperm are not motile. 9doublet+2singlet MTs in 1 cilium

Is laboratory testing available?

yes there are clinical genetic tests for mutations in 11 known genes in dynein proteins.

What are the radiographic findings?

you might see bronchiectasis, chronic bronchitis, pneumonia, situs inversus (dextrocardia, reversed liver & spleen orientation) can record movement of cilia and see if they are moving properly saccharine test put sugar pellet in nose, wait for you to taste it measures mucociliary clearance

What treatments are available for primary ciliary dyskinesia?

can vaccinate against pulmonary infections (influenza, pneumonia), and use long-term antibiotics against otitis media, pneumonia, sinusitis.can use chest physical therapy to clear airway flutter valve