Diagnosis by CMA and TEM* | Diagnosis by ciliogenesis in culture | |||
No. of samples† | PCD | SCD | Borderline | |
PCD (13)‡ | 10 | 10 (100%) | 0 (0%) | 0 (0%) |
SCD (37)§ | 33 | 0 (0%) | 30 (90.9%) | 3 (9.1%) |
Borderline (9)¶ | 8 | 4 (50%) | 2 (25%) | 2 (25%) |
*The number of subjects is given in parentheses.
†In three subjects with PCD, in four with SCD, and in one defined as borderline the cell cultures were found to be infected and consequently not useful.
‡In two subjects the diagnosis was reached with a second sampling.
§In nine subjects the diagnosis was reached with a second sampling,
¶In nine subjects the diagnosis was also inconclusive with a second sampling.
CMA, ciliary motion analysis; PCD, primary ciliary dyskinesia; SCD, secondary ciliary dyskinesia; TEM, transmission electron microscopy.