Gene Mutations in Primary Ciliary Dyskinesia Related to Otitis Media

被引：0
作者：
Manuel Mata
Lara Milian
Miguel Armengot
Carmen Carda
机构：
[1] University of Valencia,Department of Pathology. Faculty of Medicine and Odontology
[2] Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO),Department of Surgery. Faculty of Medicine
[3] University of Valencia,Department of Pharmacology
[4] Fundación para la Investigación del Hospital Clínico de la Comunidad Valenciana (INCLIVA),undefined
[5] Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES),undefined
[6] Dr. Peset University Hospital,undefined
[7] General University Hospital of Valencia,undefined
[8] Spain,undefined
[9] Faculty of Medicine and Odontology,undefined
[10] University of Valencia,undefined
来源：
Current Allergy and Asthma Reports | 2014年 / 14卷
关键词：
Primary ciliary dyskinesia; Otitis media; Kartagener syndrome; Ciliopathies; Genetics; Cilia; Gene mutations;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Otitis media with effusion (OME) is the most common cause of conductive hearing loss in children and is strongly associated with primary ciliary dyskinesia (PCD). Approximately half of the children with PCD require otolaryngology care, posing a major problem in this population. Early diagnosis of PCD is critical in these patients to minimise the collateral damage related to OME. The current gold standard for PCD diagnosis requires determining ciliary structure defects by transmission electron microscopy (TEM) or clearly documenting ciliary dysfunction via digital high-speed video microscopy (DHSV). Although both techniques are useful for PCD diagnosis, they have limitations and need to be supported by new methodologies, including genetic analysis of genes related to PCD. In this article, we review classical and recently associated mutations related to ciliary alterations leading to PCD, which can be useful for early diagnosis of the disease and subsequent early management of OME.
引用
收藏
相关论文
共 415 条
  • [11] Thomas CL(2012)Development and validation of a method of cilia motility analysis for the early diagnosis of primary ciliary dyskinesia Acta Otorrinolaringol Esp 63 1-8
  • [12] van der Linden MC(2004)Primary ciliary dyskinesia: diagnostic and phenotypic features Am J Respir Crit Care Med 169 459-356
  • [13] Macmillan H(2005)Ultrastructural patterns of primary ciliar dyskinesia syndrome Ultrastruct Pathol 29 3-1262
  • [14] van der Wouden JC(2000)Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture Acta Otorhinolaryngol Belg 54 343-487
  • [15] Butler C(2002)Computer-assisted analysis helps detect inner dynein arm abnormalities Am J Respir Crit Care Med 166 1257-144
  • [16] Wolter NE(2012)Respiratory syncytial virus inhibits ciliagenesis in differentiated normal human bronchial epithelial cells: effectiveness of N-acetylcysteine PLoS One 7 e48037-558
  • [17] Dell SD(2013)Roflumilast inhibits respiratory syncytial virus infection in human differentiated bronchial epithelial cells PLoS One 8 e69670-19
  • [18] James AL(2009)Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome Genet Med 11 473-607
  • [19] Campisi P(2002)Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry Nat Genet 30 143-3341
  • [20] Majithia A(2008)DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm Am J Hum Genet 83 547-S2
12345678910