Diagnostik der primären Ziliendyskinesie

Zusammenfassung

Die primäre ziliäre Dyskinesie ist eine angeborene Störung zilientragender Zellen und beeinträchtigt den mukoziliären Transport durch eine unkoordinierte oder verlangsamte Bewegung der Zilien. Frühe Diagnosestellung und eine entsprechende Therapie beeinflussen die Prognose günstig. Daher sollte bei rezidivierender Bronchitis, Bronchiektasen und atypischem Asthma bronchiale speziell im Kindesalter auch diese seltene Erkrankung in Betracht gezogen werden. Die große Variabilität im klinischen Verlauf – je nach Anzahl der betroffenen Zilien – und die Vielfalt der ultrastrukturellen Defekte in den Flimmerhärchen der Betroffenen erschweren die Diagnose und bestätigen, dass der Erkrankung unterschiedliche genetische Defekte zugrunde liegen. Derzeit werden ca. 300 Kandidatengene untersucht.

Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive inherited disease characterized by abnormal ciliary motion and impaired mucociliary clearance. The prevalence of PCD is approximately 1 : 15 000 – 1 : 20 000 in live births. Cilia dysfunction is also implicated in a wider spectrum of diseases due to impaired organ genesis and body symmetry. Cilia are highly conserved in animals and show complex structures containing more than 250 proteins for their formation. Recent studies have begun to locate the PCD genes in the genome and characterize functional mutations. Specific diagnosis of the ciliary dysfunction requires physiological measurements as well as light- and electron microscopy. Abnormalities in ciliary motion and ultrastructural studies can be performed with nasal mucosal epithelium.

Schlüsselwörter

ziliäre Dyskinesie - genetische Defekte - Situs inversus - Zilienfunktionsstörung - Diagnostik - respiratorische Infekte

Key words

ciliary dyskinesia - genetic defects - situs inversus - ciliary dysfunction - diagnostic - respiratory infection

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