Primary Ciliary Dyskinesia Workup
- Author: Girish D Sharma, MD, FCCP, FAAP; Chief Editor: Michael R Bye, MD more...
Eleven genes with disease-causing mutations have been identified. These include 5 genes coding for outer dynein arm proteins (DNAI1, DNAI2, DNAH5, DNAH11, TXNDC3), 2 genes for radial spoke proteins (RSPH4A, RSPH9), and 4 genes for cytoplasmic proteins involved in dynein arm assembly (c14orf104/KTU, LRRC50) and in RPGR and OFD1.
Mutations in DNAI1 and DNAH5 have been detected in 38% of patients with primary ciliary dyskinesia. Commercial testing is available for all mutations in these 2 genes. A recently available commercial test that analyzes 11 primary ciliary dyskinesia genes is estimated to detect approximately 56% of patients with primary ciliary dyskinesia. A diagnostic yield of 69% has been reported by combining ciliary biopsy and molecular genetics.
See the list below:
Chest roentgenography may reveal changes due to chronic bronchitis and pneumonia. Dextrocardia, if present, is observed on chest roentgenographs. Bronchiectasis may be observed with recurrent lower respiratory infections.
Direct video cinematography or oscillography is used to analyze ciliary beat frequency and waveform.
Digital high-speed video (DHSV) imaging allows evaluation of ciliary beat pattern in 3 different planes in slow motion or frame-by-frame. Using DHSV imaging, patients with PCD can be classified into 3 distinct groups on the basis of ciliary beat pattern (see Pathophysiology).
Ciliary beat pattern analysis is a more sensitive and specific test for PCD with positive predictive value. 
Santamaria et al have studied structural lung disease in patients with PCD using a modified Brody composite high-resolution CT (HRCT) scoring system to evaluate the severity and distribution of lung abnormalities; they found that bronchiectasis, peribronchial thickening, and peripheral mucous plugging were the most common changes, followed by central mucus plugging and parenchymal abnormalities. 
See the list below:
Mucociliary clearance studies measure the perception of sweetness after saccharin is placed on the anterior portion of the inferior turbinate. A delayed or absent response suggests impaired mucociliary clearance.
Bronchoscopy reveals mucosal inflammation and mucopurulent secretions. It can also be used to confirm the reversal of bronchial anatomy in those patients with situs inversus.
Examination of the ciliary ultrastructure by electron microscopy in a nasal or bronchial ciliary biopsy sample can be used as a diagnostic test.
Nasal biopsy (brush or curettage) samples are obtained from inferior surface of turbinates. Electron microscopy reveals the abnormalities in the cilia.
Bronchial brush biopsy demonstrates ciliary ultrastructure abnormalities using an electron microscope. Due to the varying orientation of the cilia in a biopsy specimen and resultant technical difficulties in the full analysis of cilila, a quantitative method includes assessing axonemal defects in less than perfectly oriented cilia, with dynein arms being assessed only in those cilia in which these small structures can be discerned.
A review of quantitative transmission electron microscopy in 1182 patients referred for ciliary structure analysis reported confirmation of diagnosis of PCD in 242 (20%) cases. In addition to describing an algorithm including screening tests such as exhaled nasal nitric oxide, saccharine test, light microscopy, and electron microscopy, the authors describe the use of transmission electron microscopy using a rapid quantitative method. However, electron microscopy does not always exclude the diagnosis of PCD.
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