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Table 2 Results of the diagnostic testing

From: Exacerbations and Pseudomonas aeruginosa colonization are associated with altered lung structure and function in primary ciliary dyskinesia

 All (%)Children (%)Adults (%)
nNO (nL/min)45(100)13(100)32(100)
Low(<  77)34(75.6)11(84.6)23(31.9)
Normal(≥ 77)11(24.4)2(15.4)9(28.1)
Ciliary motility50(100.0)17(100.0)33(100.0)
Complete immotility11(22.0)1(5.9)10(30.3)
Reduced CBF (<  5 Hz)22(44.0)9(52.9)13(39.4)
Reduced CBF (5–10 Hz)4(8.0)1(5.9)3(9.1)
Within normal range (>  10 Hz)2(4.0)1(5.9)1(3.0)
Absence of cilia11(22.0)5(29.4)6(18.2)
Ciliary beat pattern50(100.0)17(100.0)33(100.0)
Complete immotility11(22.0)1(5.9)10(30.3)
Minimal residual movement12(24)5(29.4)7(21.2)
Extremely stiff8(16)2(11.8)6(18.2)
Reduced proximal bending6(12)3(17.6)3(9.1)
Circular beating cilia2(4)1(5.9)1(3)
Absence of cilia11(22.0)5(29.4)6(18.2)
TEM ultrastructure54(100.0)19(100.0)35(100.0)
Only ODA absence12(22.2)2(10.5)10(28.6)
ODA + IDA absence10(18.5)1(5.3)9(25.7)
ODA + IDA absence + CC defect2(3.7)1(5.3)1(2.9)
IDA absence + MTD12(22.2)9(47.4)3(8.6)
CC defect6(11.1)2(10.5)4(11.4)
Only IDA absence3(5.6)0(0)3(8.6)
Normal9(16.7)4(21)5(14.2)
Genetic analysis42(100.0)15(100.0)27(100.0)
No mutations 16(38.1)6(40.0)10(37.0)
DNAH5 Mutations15(35.7)5(33.3)10(37.0)
DNAH11 Mutations6(14.3)2(13.3)4(14.9)
DNAI1 Mutations3(7.1)1(6.7)2(7.4)
Other mutations2(4.8)1(6.7)1(3.7)
  1. ODA = Outer Dynein Arm; IDA = Inner Dynein Arm; CC = Central Complex;MTD= Microtubular disorganization