Diagnostik der primären ziliären Dyskinesie

Abstract

Characteristics: Primary ciliary dyskinesia (PCD) is a rare congenital disease of the cilia which is mostly manifested in the respiratory system.
Diagnostics: When there is a clinical suspicion of the presence of PCD and/or a positive screening result with reduced nasal nitrogen oxide (NO) values, further diagnostic measures should be initiated as soon as possible. In centers where high-frequency video microscopy analyses (HVMA) of beating of cilia are available, an initial nasal NO measurement for screening must not necessarily be carried out. As the first diagnostic measure for confirmation or exclusion of PCD, HVMA should be carried out. If the findings are conspicuous transmission electron microscopic analysis (TEM) of the ciliary structure and high-resolution immunofluorescence (IF) microscopic analysis of the cilia should follow. Mandatory for diagnosis are at least two congruent pathological findings from HVMA, TEM or IF. When a PCD variant with no evidence of ultrastructural defects is present, an identical pathological beating of cilia must be demonstrated with HVMA on three independent occasions. Following that a targeted genetic clarification should be attempted based on the findings for HVMA, TEM and IF. A clear genetic result can also confirm the diagnosis.
Approach: When PCD is suspected contact with a diagnostic center should be made. A reference center for PCD diagnostics will evaluate uncertain findings.