Ravi Chirag, Arun Jayendra Rasuri, Thirunavukkarasu Arun Babu
{"title":"Kartagener’s syndrome in an adolescent male: A case report and review of literature","authors":"Ravi Chirag, Arun Jayendra Rasuri, Thirunavukkarasu Arun Babu","doi":"10.25259/kpj_11_2024","DOIUrl":null,"url":null,"abstract":"Kartagener’s syndrome (KS) is a rare autosomal recessive genetic condition causing disruption to ciliary movement, leading to the triad of sinusitis, situs inversus, and bronchiectasis. Mutations in genes such as DNAI1 and DNAH5 increase susceptibility to recurrent sinopulmonary infections, infertility and errors with the left-right body orientation. A teenage boy with a decade-long history of sinusitis, chronic cough and ear infections showed bronchiectasis and situs inversus in clinical and imaging examinations. He had a neonatal intensive care unit stay for 1 month due to respiratory distress at birth, where dextrocardia was noted. Treatment with antibiotics, mucolytics, chest therapy and vaccination improved his symptoms. KS should be considered in newborns with dextrocardia and breathing problems. Genetic counselling and fertility issues should be addressed once KS is diagnosed.","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"118 34","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Karnataka paediatric journal","FirstCategoryId":"0","ListUrlMain":"https://doi.org/10.25259/kpj_11_2024","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Kartagener’s syndrome (KS) is a rare autosomal recessive genetic condition causing disruption to ciliary movement, leading to the triad of sinusitis, situs inversus, and bronchiectasis. Mutations in genes such as DNAI1 and DNAH5 increase susceptibility to recurrent sinopulmonary infections, infertility and errors with the left-right body orientation. A teenage boy with a decade-long history of sinusitis, chronic cough and ear infections showed bronchiectasis and situs inversus in clinical and imaging examinations. He had a neonatal intensive care unit stay for 1 month due to respiratory distress at birth, where dextrocardia was noted. Treatment with antibiotics, mucolytics, chest therapy and vaccination improved his symptoms. KS should be considered in newborns with dextrocardia and breathing problems. Genetic counselling and fertility issues should be addressed once KS is diagnosed.