| 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 motility | 50(100.0) | 17(100.0) | 33(100.0) |
Complete immotility | 11(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 cilia | 11(22.0) | 5(29.4) | 6(18.2) |
Ciliary beat pattern | 50(100.0) | 17(100.0) | 33(100.0) |
Complete immotility | 11(22.0) | 1(5.9) | 10(30.3) |
Minimal residual movement | 12(24) | 5(29.4) | 7(21.2) |
Extremely stiff | 8(16) | 2(11.8) | 6(18.2) |
Reduced proximal bending | 6(12) | 3(17.6) | 3(9.1) |
Circular beating cilia | 2(4) | 1(5.9) | 1(3) |
Absence of cilia | 11(22.0) | 5(29.4) | 6(18.2) |
TEM ultrastructure | 54(100.0) | 19(100.0) | 35(100.0) |
Only ODA absence | 12(22.2) | 2(10.5) | 10(28.6) |
ODA + IDA absence | 10(18.5) | 1(5.3) | 9(25.7) |
ODA + IDA absence + CC defect | 2(3.7) | 1(5.3) | 1(2.9) |
IDA absence + MTD | 12(22.2) | 9(47.4) | 3(8.6) |
CC defect | 6(11.1) | 2(10.5) | 4(11.4) |
Only IDA absence | 3(5.6) | 0(0) | 3(8.6) |
Normal | 9(16.7) | 4(21) | 5(14.2) |
Genetic analysis | 42(100.0) | 15(100.0) | 27(100.0) |
No mutations | 16(38.1) | 6(40.0) | 10(37.0) |
DNAH5Â Mutations | 15(35.7) | 5(33.3) | 10(37.0) |
DNAH11Â Mutations | 6(14.3) | 2(13.3) | 4(14.9) |
DNAI1Â Mutations | 3(7.1) | 1(6.7) | 2(7.4) |
Other mutations | 2(4.8) | 1(6.7) | 1(3.7) |