Child ; Humans ; Kartagener Syndrome ; diagnosis ; therapy ; Male

A boy was admitted on day 3 after birth due to shortness of breath for 2 days and cyanosis for 1 day. He had clinical manifestations of dyspnea in the early postnatal period and situs inversus, and was finally diagnosed with Kartagener syndrome. His condition was improved after oxygen therapy, anti-infective therapy, and aerosol therapy. The genetic testing showed that there was a large-fragment loss of heterozygosity, exon 48_50, and a hemizygous mutation, c.7915C > T(p.R2639X), in the
China ; Dyspnea ; Exons ; Humans ; Infant, Newborn ; Kartagener Syndrome/therapy* ; Male ; Situs Inversus/genetics*

OBJECTIVE: To investigate the clinical feature and diagnostic criteria of Kartagener syndrome, and related treatment of sinusitis and nasal polyps. METHOD: The clinical data of 5 patients which were diagnosed as complete Kartagener syndrome in The forth hospital of Hebei medical university were analyzed retrospectively. The first symptom of these patients was sinusitis. All of them accepted cardiac apical auscultation, X ray of orthophoria chest film and chest CT plain scan examination before diagnosis. All of them were treated intervention therapy in outpatient department,and 1 case accepted endoscopic sinus surgery in the hospital. The analysis of the data was to investigate the diagnosis in outpatient department and the perioperative therapy effect. RESULT: All of the 5 patients' clinical feature were total mirror situs inversus viscerum, Dexcrocardia and brochiectasis associated with infection, "signet ring sign", "tram line sign", "honeycomb sign" at different degree on chest CT, bilateral maxillary and ethmoidal sinus inflammation on sinus CT. All the 5 patients appeared bilateral secretor otitis media associated with conductive deafness at different degree. 4 cases accepted anti-inflammation,mucus diluted and medicine treatment to improve cilia activity. 1 case accepted medicine and endoscopic sinus operation for obvious nasal symptoms. After following up for years,all symptoms of the 5 patients relieved, so did recurrent bronchiectasis infection. 1 case with operation had obviously relieved symptom and no postoperative complication. CONCLUSION Although complete Kartagener syndrome is infrequent disease, heart auscultation diagnosis and image examination are effective method to reduce missed diagnosis. Symptomatic treatment and suitable endoscopic sinus surgery method can reduce sinus symptom and the infection possibility of bronchiectasis effectively,which is beneficial for KS outcome.
Adolescent ; Adult ; Child ; Diagnostic Errors ; Female ; Humans ; Kartagener Syndrome ; diagnosis ; therapy ; Male ; Retrospective Studies