Development and validation of a method of cilia motility analysis for the early diagnosis of primary ciliary dyskinesia.

نویسندگان

  • Miguel Armengot
  • Mireya Bonet
  • Carmen Carda
  • María José Gómez
  • Javier Milara
  • Manuel Mata
  • Julio Cortijo
چکیده

BACKGROUND Primary ciliary dyskinesia (PCD) is a clinically uniform entity, but cilia motility and structure can vary between patients, making the diagnostic difficult. The aim of this study was to evaluate the sensitivity and specificity in diagnosing PCD of a system of high-resolution digital high-speed video analysis with proprietary software that we developed for analysis of ciliary motility (Desinsoft-Bio 200). The secondary aim was to correlate nasal ciliary activity with clinical and structural abnormalities in PCD. MATERIAL AND METHODS We analysed nasal mucociliary transport, cilia ultrastructure, nasal ciliary beat frequency and beat pattern studied by high-resolution digital high-speed video in 25 cases of PCD (11 Kartagener syndrome), 27 secondary ciliary dyskinesia and 34 healthy volunteers. RESULTS Nasal mucociliary transport was defective in both primary and secondary ciliary dyskinesia. Ciliary immotility was observed only in 6 patients with Kartagener syndrome and correlated with the absence of dynein. We observed a correlation between partial dynein deficiencies and ciliary dyskinesia. Cilia activity and structure was normal in secondary ciliary dyskinesia. CONCLUSION Nasal mucociliary transport showed high sensitivity for PCD diagnosis with a low specificity. High-resolution digital high-speed video has a high sensitivity and specificity for diagnosing PCD. This system of video analysis is more useful than ultrastructural study and mucociliary transport for PCD screening. Dynein absence is correlated with cilia immotility and is more common in patients with Kartagener syndrome.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Primary ciliary dyskinesia: mechanisms and management

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in ...

متن کامل

[Primary ciliary dyskinesia. Ciliopathies].

Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections since birth, male sterility by spermatozoid immotility and situs inversus in 40-50% of patients (Kartagener's syndrome). Diagnosis is made by analyzing cilia motility with high-speed digital video and ciliar ...

متن کامل

Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome.

Primary ciliary dyskinesia (PCD) is associated with abnormalities in the structure of a function of motile cilia, causing impairment of muco-ciliary clearence, with bacterial overinfection of the upper and lower respiratory tract (chronic oto-sino-pulmonary disease), heterotaxia (situs abnormalities), with/without congenital heart disease, abnormal sperm motility with male infertility, higher f...

متن کامل

Culture of Primary Ciliary Dyskinesia Epithelial Cells at Air-Liquid Interface Can Alter Ciliary Phenotype but Remains a Robust and Informative Diagnostic Aid

BACKGROUND The diagnosis of primary ciliary dyskinesia (PCD) requires the analysis of ciliary function and ultrastructure. Diagnosis can be complicated by secondary effects on cilia such as damage during sampling, local inflammation or recent infection. To differentiate primary from secondary abnormalities, re-analysis of cilia following culture and re-differentiation of epithelial cells at an ...

متن کامل

Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder

Primary ciliary dyskinesia (PCD) is a ciliopathy, but represents the sole entity from this class of disorders that results from the dysfunction of motile cilia. Characterized by respiratory problems appearing in childhood, infertility, and situs defects in ~50% of individuals, PCD has an estimated prevalence of approximately 1 in 10,000 live births. The diagnosis of PCD can be prolonged due to ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Acta otorrinolaringologica espanola

دوره 63 1  شماره 

صفحات  -

تاریخ انتشار 2012