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Table 5 Elaboration of patients with significant discrepancies between test results

From: Clinical value of measurement of pulmonary radioaerosol mucociliary clearance in the work up of primary ciliary dyskinesia

Variables Patient
1 2 3 4 5
Age, years 15 6 15 17 10
PRMC PCD/SCD PCD/SCD (A normal PRMC was found 2 years later) PCD/SCD Inconclusive Inconclusive
Ciliary motility study Abnormal (but some sequences are described as being normal) Abnormal Abnormal (described as only slightly abnormal and partly inconclusive test) Abnormal (described as being only slightly abnormal) Abnormal (described as being only slightly abnormal)
EM Normal Abnormal Normal Normal Abnormal (described as being only slightly abnormal)
Nasal NO Normal Normal Normal Normal
Final clinical diagnosis Not PCD Not PCD Not PCD Not PCD Not PCD
Comments on final clinical diagnosis Recurring infections apparently due to immune deficiency Today, asymptomatic Unknown restrictive lung disease and recurring upper airway infections Abnormal ciliary study might be due to SCD Today, asymptomatic
Abnormal PRMC, ciliary study and EM might be due to SCD Abnormal ciliary study and EM might be due to SCD
Abnormal PRMC and ciliary study might be due to SCD Abnormal PRMC and ciliary study might be due to SCD
Variables Patient
6 7 8 9 10
Age, years 20 34 61 8 13
PRMC Inconclusive Inconclusive Normal Normal Normal
Ciliary motility study Abnormal (described as being only slightly abnormal) Abnormal (described as being only slightly abnormal) Abnormal (described as being only slightly abnormal) Abnormal Abnormal (described as being only slightly abnormal)
EM Normal Normal
Nasal NO Normal Normal
Final clinical diagnosis Not PCD Not PCD Not PCD Not PCD Not PCD
Comments on final clinical diagnosis Recurring aspergilloma Abnormal ciliary study might be due to SCD Asymptomatic today Asthma Asthma
Today asymptomatic Today, only few symptoms
Abnormal ciliary study might be due to SCD Abnormal ciliary study might be due to SCD Abnormal ciliary study might be due to SCD Abnormal ciliary study might be due to SCD
Variables Patient
11 12 13 14 15
Age, years 10 11 7 8 13
PRMC Normal Normal Normal Normal Normal
Ciliary motility study Abnormal (the specimen was infected) Abnormal Abnormal (described as being only slightly abnormal) Abnormal Abnormal
EM Normal Abnormal Normal Normal
Nasal NO Normal Normal Normal Normal Normal
Final clinical diagnosis Not PCD Not PCD Not PCD Not PCD Not PCD
Comments on final clinical diagnosis Severe asthma and atopic dermatitis Today, asymptomatic Asthma and allergies Today asymptomatic Abnormal ciliary study might be due to SCD
Abnormal ciliary study might be due to SCD No explanation has been found for the patient’s earlier airway symptoms Today, only few airway symptoms Abnormal ciliary study might be due to SCD
Abnormal ciliary study and EM might be due to SCD Abnormal ciliary study might be due to SCD
Variables Patient
16 17 18 19 20 21
Age, years 24 5 7 9 37 12
PRMC Normal Normal PCD/SCD PCD/SCD PCD/SCD Inconclusive
Ciliary motility study Abnormal Abnormal (described as being only slightly abnormal) Abnormal Abnormal Abnormal Abnormal
EM Normal Normal (described as being partly inconclusive) Normal Normal (described as being partly inconclusive) Normal
Nasal NO Normal Normal Abnormal
Final clinical diagnosis Not PCD Not PCD Verified PCD Verified PCD Verified PCD Verified PCD
Comments on final clinical diagnosis Abnormal ciliary study might be due to SCD Asthma Clinically PCD is plausible with frequent airway infections Clinically PCD is plausible with frequent airway infections and severe basal bronchiectasis Clinically PCD is plausible with frequent airway infections Clinically PCD is plausible with chronic productive coughing, bronchiectasis and situs inversus
Abnormal ciliary study might be due to SCD