Table 2.
Index test and reference standard characteristics
| Study Authors, Year (Reference) | Index Test Characteristics* |
Reference Standard Characteristics* |
||||||
|---|---|---|---|---|---|---|---|---|
| Analyzer | Flow Rate (L/Min) | Method | Cutoff (nl/Min) | PCD Diagnosis | EM Ultrastructure | Genetics | PCD Diagnosis Not Confirmed by EM and/or Genetics | |
| Beydon et al., 2015† (29) | NIOX Flex, Endono 8000 | 0.30 | Mainly ER, 5 PCD via TB were excluded | 82.2 | 44 of 49 PCD analyzed: EM (n = 44) and/or genetics (n = 22) | ODA (n = 17) | DNAI1 (n = 5) | Three IDA defects alone without confirmation by genetics (6.8%) |
| ODA+IDA (n = 5) | DNAI2 (n = 1) | |||||||
| Central pair (n = 10) | RSPH1 (n = 1) | |||||||
| RSPH9 (n = 1) | ||||||||
| RSPH4A (n = 2) | ||||||||
| DYX1C1 (n = 2) | ||||||||
| RPGR (n = 1) | ||||||||
| Unknown total number of genes tested | ||||||||
| IDA+MTD (n = 9) | CCDC39 (n = 6) | |||||||
| CCDC40 (n = 3) | ||||||||
| Unknown total number of genes tested | ||||||||
| IDA alone (n = 3) | ||||||||
| Boon et al., 2014† (14) | Eco Physics CLD88 | 0.30 | ER | 90 | 38 PCD analyzed: EM (n = 23) or HSVA after ciliary culture regrowth (n = 15), and/or post hoc confirmation by genetics (n = 21) | ODA (n = 19) | DNAH5 (n = 4) | Two normal EM without confirmation by genetics (5.1%) |
| Only DNAH5 tested | ||||||||
| IDA+MTD (n = 3) | CCDC40 (n = 3) | |||||||
| Only CCDC40 tested | ||||||||
| RSP(n = 1) | RSPH4 (n = 1) | |||||||
| Unknown total number of genes tested | ||||||||
| Normal EM with abnormal HSVA (n = 15) | DNAH11 (n = 10) | |||||||
| Exome sequence used for 10 cases | ||||||||
| HYDIN (n = 2) | ||||||||
| CCDC65 (n = 1) | ||||||||
| Unknown total number of genes tested | ||||||||
| Harris et al., 2014† (16) | NIOX Flex | 0.30 | BH | 38 | 13 PCD analyzed: EM (n = 11) or HSVA after ciliary culture regrowth in some cases with post hoc confirmation by genetics (n = 2) | ODA (n = 5) | 0 | |
| ODA+IDA (n = 5) | ||||||||
| IDA+MTD (n = 1) | ||||||||
| Normal EM with abnormal HSVA (n = 2) | DNAH11 (n = 2) | |||||||
| Only DNAH11 tested | ||||||||
| Leigh et al., 2013† (17) (leading site) | Sievers 280i, Eco Physics CLD88, NIOX Flex | 0.50, 0.33, 0.30 | ER | 76.9 | 149 PCD analyzed: EM (n = 143) or genetics (n = 6) | ODA (n = 87) | 0 | |
| ODA+IDA (n = 28) | ||||||||
| IDA+MTD (n = 23) | ||||||||
| CA (n = 5) | ||||||||
| Normal EM (n = 6) | DNAH11 (n = 6) | |||||||
| Leigh et al., 2013† (17) (other sites) | Sievers 280i, Eco Physics CLD88, NIOX Flex | 0.50, 0.33, 0.30 | ER | 76.9 | 71 PCD analyzed: EM (n = 65) or genetics (n = 6) | ODA (n = 36) | 0 | |
| ODA+IDA (n = 13) | ||||||||
| IDA+MTD (n = 15) | ||||||||
| CA (n = 1) | ||||||||
| Normal EM (n = 3) | Confirmed but not disclosed (n = 6) | |||||||
| Inadequate EM (n = 3) | Unknown total number of genes tested | |||||||
| Mateos-Corral et al., 2011 (15) | Eco Physics CLD88 | 0.33 | ER | 58.5 | 20 PCD analyzed: EM (n = 20) with post hoc confirmation by genetics (n = 17) | ODA+IDA (n = 11) | DNAH5 (n = 6) | 0 |
| IDA+MTD (n = 4) | DNAH11 (n = 1) | |||||||
| ODA (n = 3) | DNAI2 (n = 1) | |||||||
| RSP (n = 2) | CCDC39 (n = 2) | |||||||
| CCDC40 (n = 1) | ||||||||
| DYX1C1 (n = 3) | ||||||||
| RSHP4A (n = 1) | ||||||||
| KTU (n = 1) | ||||||||
| LRRC50 (n = 1) | ||||||||
| Two-gene panel used in one case | ||||||||
| 12-gene panel used in 12 cases | ||||||||
| 21-gene panel used in three cases | ||||||||
| 32-gene panel used in four cases | ||||||||
| Noone et al., 2004† (30) | Sievers 270B | 0.50 | BH | 100 | 69 PCD analyzed: EM (n = 60) or complete clinical phenotype with post hoc confirmation by genetics (n = 9) | ODA (n = 31) | Confirmed but not disclosed (n = 9) | 0 |
| ODA+IDA (n = 16) | Only two genes tested | |||||||
| IDA+MTD (n = 13) | ||||||||
| Papon et al., 2012 (31) | EVA4000 | Per ATS standards | Per ATS standards | 100 | 13 PCD analyzed: EM (n = 13) | ODA (n = 9) | 0 | |
| IDA+nexin link (n = 2) | ||||||||
| ODA+IDA (n = 1) | ||||||||
| Central pair (n = 1) | ||||||||
| Piacentini et al., 2008 (32) | NIOX Flex | 0.30 | Mainly BH, 2 PCD via TB were excluded | 20.4 | 8 of 10 PCD analyzed: EM (n = 10) | ODA+IDA (n = 7) | 0 | |
| ODA (n = 1) | ||||||||
| IDA (n = 2) | ||||||||
| Pifferi et al., 2011† (33) | Eco Physics CLD88 | 0.33 | Mainly ER, 8 PCD via TB were excluded | 96 | 40 of 48 PCD analyzed: EM (n = 42) or HSVA after ciliary culture regrowth with post hoc confirmation by genetics (n = 6) | ODA+IDA (n = 23) | 0 | |
| IDA+CA+MTD (n = 12) | ||||||||
| ODA (n = 2) | ||||||||
| IDA+MTD (n = 3) | ||||||||
| IDA (n = 2) | ||||||||
| Normal EM with abnormal HSVA (n = 6) | DNAH11 (n = 6) | |||||||
| Only DNAH11 tested | ||||||||
| Santamaria et al., 2008 (35) | NIOX Flex | 0.28 | BH | 16.8 | 14 PCD analyzed: EM (n = 14) | ODA+IDA (n = 8) | One nonclassic EM anomaly without confirmation by genetics (7.1%) | |
| ODA (n = 1) | ||||||||
| IDA+MTD (n = 3) Central pair (n = 1) | ||||||||
| Basal body anomaly (n = 1) | ||||||||
| Wodehouse et al., 2003 (34) | LR2000 | 0.25 | BH | 50 | 42 PCD analyzed: EM (n = 42) | ODA (n = 21) | 12 IDA defects alone without confirmation by genetics (28.6%) | |
| ODA+IDA (n = 5) | ||||||||
| Transposition (n = 2) | ||||||||
| Radial spoke (n = 2) | ||||||||
| Unspecified IDA (n = 12) | ||||||||
Definition of abbreviations: ATS = American Thoracic Society; BH = breath hold; CA = central apparatus defect; EM = electron microscopy; ER = exhalation against resistance; HSVA = high-speed videomicroscopic analysis; IDA+MTD = inner dynein arm and microtubule disorganization defect; ODA = outer dynein arm defect; ODA+IDA = outer dynein arm and inner dynein arm defect; PCD = primary ciliary dyskinesia; RSP = radial spoke defect; TB = tidal breathing.
*
All information in italics is derived from personal communications with the studies’ authors.
†
Studies considered as using a combination of EM and/or genetics as the reference standard.