{"title":"Understanding primary ciliary dyskinesia.","authors":"Thomas Ferkol","doi":"10.1002/ppul.27360","DOIUrl":null,"url":null,"abstract":"<p><p>Primary ciliary dyskinesia (PCD) is a rare, inherited disease characterized by impaired motile ciliary function leading to chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and subfertility. Over fifty PCD-associated genes have also been identified, which have provided new insights into the processes involved into ciliary assembly, structure, and function. Historically, the diagnosis of PCD was based on the presence of ultrastructural defects in the ciliary axoneme but with identification of a growing number of disease-associated genes, genetic testing has become a first-line diagnostic tool. Other approaches have also evolved, that have improved our diagnostic capabilities. Treatments for PCD have lagged, and though our growing understanding of the genetic and pathophysiological bases of the disease of PCD may yield to better therapeutic strategies.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":" ","pages":"S86-S87"},"PeriodicalIF":2.7000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Pulmonology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ppul.27360","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/28 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Primary ciliary dyskinesia (PCD) is a rare, inherited disease characterized by impaired motile ciliary function leading to chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and subfertility. Over fifty PCD-associated genes have also been identified, which have provided new insights into the processes involved into ciliary assembly, structure, and function. Historically, the diagnosis of PCD was based on the presence of ultrastructural defects in the ciliary axoneme but with identification of a growing number of disease-associated genes, genetic testing has become a first-line diagnostic tool. Other approaches have also evolved, that have improved our diagnostic capabilities. Treatments for PCD have lagged, and though our growing understanding of the genetic and pathophysiological bases of the disease of PCD may yield to better therapeutic strategies.
期刊介绍：
Pediatric Pulmonology (PPUL) is the foremost global journal studying the respiratory system in disease and in health as it develops from intrauterine life though adolescence to adulthood. Combining explicit and informative analysis of clinical as well as basic scientific research, PPUL provides a look at the many facets of respiratory system disorders in infants and children, ranging from pathological anatomy, developmental issues, and pathophysiology to infectious disease, asthma, cystic fibrosis, and airborne toxins. Focused attention is given to the reporting of diagnostic and therapeutic methods for neonates, preschool children, and adolescents, the enduring effects of childhood respiratory diseases, and newly described infectious diseases.
PPUL concentrates on subject matters of crucial interest to specialists preparing for the Pediatric Subspecialty Examinations in the United States and other countries. With its attentive coverage and extensive clinical data, this journal is a principle source for pediatricians in practice and in training and a must have for all pediatric pulmonologists.
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