Clinical details |
Gender |
M |
F |
M |
M |
Sitis inversus |
Yes |
Yes |
No |
Yes |
Respiratory distress at birth |
No |
No |
Yes |
No |
Consanguinous parents |
Yes |
Yes |
No |
No |
Results from initial diagnosis |
Nasal nitric oxide |
N/A |
N/A |
N/A |
N/A |
CBF (Hz) |
15.6 |
14.5 |
16.3 |
10.2 |
Cilia beat pattern |
dyskinetic |
dyskinetic |
dyskinetic |
dyskinetic |
% IDA absent at TEM |
79 |
53 |
55 |
25 |
Age |
4yrs |
10yrs |
1yr |
3yrs |
ENT symptoms |
Yes |
Yes |
Yes |
Yes |
Lower respiratory tract symptoms |
Yes |
Yes |
Yes |
Yes |
Results at review |
Nasal nitric oxide (ppb) |
700 |
605 |
276 |
503 |
CBF (Hz) |
8.5 |
10.9 |
13.3 |
11.5 |
Cilia beat pattern |
co-ordinated |
co-ordinated |
co-ordinated |
co-ordinated |
%IDA absent at TEM |
0 |
3 |
0 |
5 |
Age |
7yrs |
15yrs |
7yrs |
14yrs |
ENT symptoms |
Yes |
No |
No |
No |
Lower respiratory tract symptoms |
Yes |
No |
No |
Yes |
Prescence of IDA component DNALI1 |
Yes |
Yes |
Yes |
Yes |