B. Rubin
{"title":"Primary Ciliary Dyskinesia","authors":"B. Rubin","doi":"10.1542/9781610021432-part05-ch70","DOIUrl":null,"url":null,"abstract":"*Corresponding author. E-mail address: miguel.armengot@gmail.com (M. Armengot Carceller). Abstract Primary ciliary dyskinesia is a genetically inherited syndrome characterised by ciliary immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections from birth, male sterility by spermatozoid immotility and situs inversus in 40%-50% of patients (Kartagener’s syndrome). Diagnosis is made by analysing ciliary motility with high-speed digital video and ciliary ultrastructure. The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary ciliary dyskinesia. © 2008 Elsevier España, S.L. All rights reserved.","PeriodicalId":376952,"journal":{"name":"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide","volume":"38 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1542/9781610021432-part05-ch70","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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