Ultrastructural pathology of primary ciliary dyskinesia: report about 125 cases in Germany.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD) is a rare genetically induced disorder of cilia inducing mainly respiratory diseases. Transmission electron microscopy (TEM) analysis of ciliary ultrastructure is classically used for diagnosis. We report our experience of TEM investigations in a large series of patients.

Methods

TEM analysis performed of 742 biopsies from patients with suspected PCD was reviewed retrospectively. Ultrastructural defects were analyzed further in 125 cases with changes typical for PCD.

Results

In 18.1% of patients diagnosis of PCD was made because of morphological alterations, in 68.2% secondary changes were seen. In 13.7% material was not feasible for analysis. Mostly defects of dynein arms were detected in PCD (96.8%). In particular defects

SUBMITTER: Theegarten D 

PROVIDER: S-EPMC3292478 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature