Table 3– Techniques used for diagnosing primary ciliary dyskinesia in European children, by region
TotalWestern EuropeBritish IslesSouthern EuropeNorthern EuropeEastern Europe
n%95% CIn%95% CIn%95% CIn%95% CIn%95% CIn%95% CI
Screening tests
 Nasal nitric oxide8945.938.8–53.03150.837.9–63.71133.316.4–50.32348.934.1–63.781568.247.0–89.3929.012.1–46.0
 Saccharine/variant of saccharine7036.129.3–42.91829.517.7–41.3618.24.3–32.12451.136.2–65.9836.414.5–58.21445.226.6–63.7
Biopsy#17590.286.0–94.45895.199.5–1002472.756.7–88.74391.583.2–100221002890.379.3–100
 Bronchial mucosa12463.957.1–70.74675.464.3–86.51442.424.6–60.23268.154.3–81.91568.247.0–81.91754.836.3–73.4
 Nasal brush/biopsy16484.579.4–89.75285.276.1–94.42472.756.7–88.84085.174.5–95.62195.486.0–1002787.174.6–100
Analytic methods
 Electron microscopy15077.371.4–83.35082.072.0–91.92369.753.1–86.23574.461.5–87.41881.864.3–99.32477.461.8–93.0
 Any ciliary function (native)11157.250.2–64.23963.951.5–76.32472.756.7–88.72553.238.4–68.01045.522.9–68.11341.923.5–60.3
 Ciliary visualisation9549.041.9–56.13760.648.0–73.31648.530.5–66.52144.729.9–59.4836.414.5–58.21341.923.5–60.3
 Ciliary beat frequency7136.629.8–43.42845.933.0–58.81751.533.5–69.51429.816.2–43.4418.20.6–35.6825.89.4–42.1
 Ciliary beat frequency and pattern5327.321.0–33.61727.816.2–39.41751.533.5–69.51225.512.6–38.5522.73.7–41.726.50.0–15.6
 Culture of ciliated epithelium4221.615.8–27.51829.517.7–41.31339.421.8–56.948.50.0–16.8418.20.6–35.739.70.0–20.7
Genetic testing5829.923.4–36.42947.534.6–60.4927.311.2–43.31021.39.1–33.4313.60.0–29.2722.67.0–38.2
  • European regions are defined as follows. Western Europe: Austria, Belgium, France, Germany, the Netherlands and Switzerland (n=61); British Isles: Ireland and UK (n=33); southern Europe: Cyprus, Greece, Italy, Portugal and Spain (n=47); northern Europe: Denmark, Finland, Norway and Sweden (n=22); eastern Europe: Bulgaria, Czech Republic, Estonia, Hungary, Israel, Romania, Serbia, Slovakia and Turkey (n=31) (total n=194). Tests available to a centre were either carried out in-house or by referral of the patient or specimen to another hospital. CI: confidence interval. #: bronchial mucosa or nasal brush/biopsy; : ciliary visualisation, ciliary beat frequency or ciliary beat frequency and pattern.