Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

Table 3 Results of functional and ultrastructural evalution before and after cell culture

		Normal values	Normal ultrastructure (n = 68)		Dynein deficiency (n = 90)		Central pair abnormalities (n = 41)		p-value for comparison between 3 groups
			Before	After	Before	After	Before	After	Before	After
SAMPLE QUALITIY	No cilia found
	- For functional evaluation		30 (44%)	0	36 (40%)	0	15 (37%)	0	0.782	NA
	- for TEM		22 (32%)	0	27 (30%)	0	13 (32%)	0	0.948	NA
	Number of cilia counted for TEM		82 (45–114)	85 (59–132) 0.236	92 (58–160)	84 (49–129) 0.839	70 (52–126)	95 (61–125) 0.194	0.490	0.620
	Total SCD (%)	<5%	10 (5–22)	1 (0–4) 0.0001	13 (7–21)	1 (0–4) 0.0001	52 (31–70)*	52 (27–68)* 0.612	0.0001	0.0001
SPECIFIC MEASUREMENTS	CBF (Hz) (median-IQR)	7.9 (1.8) (mean, SD)	5.8 (0–9.6)	0 (0–6.3) 0.001	0 (0–0)*	0 (0–0)* 0.674	5 (0–6.9)	4.4 (0–5.6) 0.170	0.0001	0.0001
	N(%) of patients with normal CBF		18 (27%)	19 (28%)	4 (4%)*	11 (12%)*	14 (34%)	21 (51%)	0.0001	0.0001
	N(%) of patients with Normal coordination		17 (25%)	0	2 (2%)*	0	8 (20%)	0	0.0001	NA
	N(%) of patients with normal CBF and coordination		11 (16.2%)	0	1 (1.1%)*	0	6 (14.6%)	0	0.002	NA
	N of ODA (median-IQR)	8.4 (0.8) (mean, SD)	8.3 (7.8–8.6)	8.4 (7.9–8.7) 0.238	2.3 (1.35–4.1)*	2.4 (1.4–4.6)* 0.233	8.6 (8.3–8.9)	8.6 (8.3–8.7) 0.221	0.0001	0.0001
	N of IDA (median-IQR)	3.7 (1.4) (mean, SD)	3.2 (2.7–3.7)*	2.7 (2.3–3)* 0.001	2.9 (2.4–3.5)	2.1 (1.7–2.6) 0.0001	3.0 (1.3–3.6)	2.3 (1.1–2.7) 0.0001	0.036	0.0001

Legend: Sample specifications and results of functional (CBF and coordination of ciliary activity) and structural evaluation of the cilia before and after cell culture in the 3 subgroups. Normal values are reported in the first column, based on our own laboratory references [18, 32], and updated with more recent data. Each subsequent column represents a subgroup of PCD and each column is subdivided in a first column for evaluation before cell culture (= in the biopsy) and a second column after cell culture. Individual results were compared before and after ciliogenesis (Wilcoxon signed rank test), and the result of these comparisons is marked in italic. Comparison between the 3 PCD subgroups (Kruskal-Wallis or χ² test) is presented in the last table. If the comparison revealed a significant result, pairwise comparisons were performed and the significant outlier was identified and marked with *.
CBF, ciliary beat frequency.
IDA, inner dynein arm.
IQR, inter quartile range.
NA, not appropriate.
NU, normal ultrastructure.
ODA, outer dynein arm.
PCD, primary ciliary dyskinesia.
SCD, secondary ciliary dyskinesia.
SD, standard deviation.
TEM, transmission electron microscopy.

ISSN: 1750-1172