Research progress of diagnostic approaches in primary ciliary dyskinesia / 解放军医学杂志

ABSTRACT

Primary ciliary dyskinesia (PCD) is an autosomal recessive or X-linked inherited disorder.The diagnosis of PCD is primarily based on clinical assessment accompanied with various supplementary methods,such as nasal nitric oxide (NO) examination,high-speed video microscopy,transmission electron microscopy and genetic tests.Some patients may fail to have a timely diagnosis resulted in delayed treatment since the devices and expertise limited in most medical centers.Recently,the use of immunofluorescence (IF) in PCD diagnosis is gaining acceptance within the clinical community.Specific antibodies against ciliary architecture are used in IF analyses to elucidate ciliary abnormality and are potentially important for early diagnosis of PCD.The present review summarizes the diagnostic methods of PCD with a focus on IF.