Objective To analyze the clinical features and laboratory examinations of Kartagener syndrome- a special type of primary ciliary dyskinesia (PCD) and summarize the progress of diagnostic methods for PCD.
Methods Clinical data about a female patient with Kartagener syndrome who admitted to our hospital were retrospectively analyzed.
Results The patient was a 40-year-old female with a history of recurrent cough and sputum for 16 years and a history of shortness of breath after activity for 5 years. CT of the sinuses suggested multiple groups of paranasal sinusitis. CT of chest showed situs inversus totalis with bronchiectasis. The ultrastructure defects of ciliary were observed by transmission electron microscope (TEM), including outer dynein arm defects and compound cilia. Genetic testing revealed one heterozygous mutation in the DNAH5 gene. By searching the literatures, we found that there were reports of heterozygous mutations in a few patients with PCD.
Conclusion Kartagener syndrome is rare in clinical practice. Typical clinical manifestations combined with transmission electron microscopy can be employed to assist in making a definite diagnosis, and total exon gene detection is helpful for the early diagnosis of PCD.
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