Background
Methods
Study design
Patients
PRMC test
Final clinical diagnosis
Statistical analysis
Ethics
Results
Overview
Results from PRMC test | Age group | |||||
---|---|---|---|---|---|---|
4–14 years | 15–24 years | 25–34 years | 35–54 years | 55–75 years | All | |
n = 105 (%) |
n = 28 (%) |
n = 34 (%) |
n = 44 (%) |
n = 28 (%) |
n = 239 (%) | |
PCD/SCD | 21 (20) | 9 (32.1) | 12 (35.3) | 13 (29.5) | 2 (7.1) | 57 (23.8) |
[14, 67 %] | [3, 33 %] | [3, 25 %] | [3, 23 %] | [0] | [23, 40 %] | |
Inconclusive | 14 (13.3) | 3 (10.7) | 2 (5.9) | 5 (11.4) | 1 (3.6) | 25 (10.5) |
[4, 29 %] | [0] | [0] | [0] | [0] | [4, 16 %] | |
Normal or otherwise not consistent with PCD | 70 (66.7) | 16 (57.1) | 20 (58.8) | 26 (59.1) | 25 (89.3) | 157 (65.7) |
[0] | [0] | [0] | [0] | [0] | [0] |
PRMC results in relation to final clinical diagnosis
Final clinical diagnosis | ||||||
---|---|---|---|---|---|---|
Results from PRMC test | Verified PCD | Uncertain but probably PCD | Uncertain | Uncertain but probably not PCD | Not PCD | Total |
n = 27 (%) |
n = 3 (%) |
n = 32 (%) |
n = 28 (%) |
n = 149 (%) |
n = 239 (%) | |
PCD/SCD | 23 (85.2) | 2 (66.6) | 7 (21.9) | 3 (10.7) | 22 (14.8) | 57 (23.8) |
Inconclusive | 4 (14.8) | 1 (33.3) | 3 (9.4) | 1 (3.6) | 16 (10.7) | 25 (10.5) |
Normal or otherwise not consistent with PCD | 0 (0) | 0 (0) | 22 (68.7) | 24 (85.7) | 111 (74.5) | 157 (65.7) |
PRMC results in relation to ciliary function testing, EM, and final clinical diagnosis
Results from ciliary motility study | Final clinical diagnosis related to results from PRMC and ciliary motility study | |||||||
---|---|---|---|---|---|---|---|---|
Results from PRMC test | Abnormal, consistent with PCD | Inconclusive | Normal, not consistent with PCD | Verified PCD | Uncertain but probably PCD | Uncertain | Uncertain but probably not PCD | Not PCD |
n = 45 (%) |
n = 17 (%) |
n = 46 (%) |
n = 25 (%) |
n = 2 (%) |
n = 7 (%) |
n = 3 (%) |
n = 71 (%) | |
PCD/SCD | 26 (57.8) | 22 (88) | 1 (50) | – | – | 3a (4.2) | ||
2 (11.8) | – | – | – | – | 2 (2.8) | |||
15 (32.6) | – | – | 3 (42.8) | 1 (33.3) | 11 (15.5) | |||
Inconclusive | 8 (17.8) | 3 (12) | – | 1 (14.3) | – | 4a (5.6) | ||
2 (11.8) | – | 1 (50) | – | – | 1 (1.4) | |||
8 (17.4) | – | – | 1 (14.3) | – | 7 (9.9) | |||
Normal or otherwise not consistent with PCD | 11 (24.4) | – | – | 1 (14.3) | – | 10a (14.1) | ||
13 (76.4) | – | – | 1 (14.3) | 2 (66.6) | 10 (14.1) | |||
23 (50) | – | – | – | – | 23 (32.4) |
Results from EM study | Final clinical diagnosis related to results from PRMC and EM study | |||||||
---|---|---|---|---|---|---|---|---|
Results from PRMC test | Abnormal, consistent with PCD | Inconclusive | Normal, not consistent with PCD | Verified PCD | Uncertain but probably PCD | Uncertain | Uncertain but probably not PCD | Not PCD |
n = 23 (%) |
n = 13 (%) |
n = 44 (%) |
n = 26 (%) |
n = 2 (%) |
n = 4 (%) |
n = 2 (%) |
n = 46 (%) | |
PCD/SCD | 18 (78.3) | 17 (65.4) | – | – | – | 1 (2.2) | ||
5 (38.5) | 2 (7.7) | – | 1 (25) | – | 2 (4.3) | |||
16 (36.4) | 3a (11.5) | 1 (50) | 1 (25) | – | 11 (23.9) | |||
Inconclusive | 3 (13.0) | 2 (7.7) | – | – | – | 1a (2.2) | ||
3 (23.0) | 1 (3.8) | – | – | – | 2 (4.3) | |||
7 (15.9) | 1a (3.8) | 1 (50) | 1 (25) | 1 (50) | 3 (6.5) | |||
Normal or otherwise not consistent with PCD | 2 (8.7) | – | – | 1 (25) | – | 1a (2.2) | ||
5 (38.5) | – | – | – | 1 (50) | 4 (8.7) | |||
21 (47.7) | – | – | – | – | 21 (45.7) |
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 |
Inconclusive tests
Comparison of penetration index and retention in different groups
Mean values for children | Mean values for adults | Difference of the means (95 % CI) |
p value | |
---|---|---|---|---|
n = 42 |
n = 44 | |||
Z-score for LR1
| −1.4 | 0.089 | 1.47 (1.05; 1.89) |
p < 0.001 |
Z-score for LR2
| −1.7 | −0.0023 | 1.65 (1.15; 2.15) |
p < 0.001 |
PI | 0.40 | 0.61 | 0.2 (0.127; 0.276) |
p < 0.001 |