Electron microscopy in ciliary disorders

Yıl 2012, Cilt: 2 Sayı: 1, 40 - 52, 31.01.2014

Serap Şirvancı Özlem Çilingir Kaya

Öz

Primary ciliary dyskinesia (PCD) is composed of the diseases resulting from congenital defects of cilia. Diagnosis is reached on the basis of clinical history, abnormal ciliary beat frequency and specific axonemal defects observed by transmission electron microscopy. Electron microscopic assessment for the diagnosis of PCD comes into prominence in clinically and light microscopically undiagnosed cases. Microtubule defects, dynein arm deficiency and orientation disorders cannot be detected by light microscopy; electron microscopy is the method of choice in the diagnosis of such disorders. Ciliary orientation should be measured in patients having recurrent respiratory tract infections since disorientation can be the only defect in some patients. Ciliary disorders are classified as primary (congenital) and secondary (acquired) disorders. The latter are caused by environmental factors, such as infection, smoking and air pollution. The diagnosis of PCD may be difficult since the epithelial cell and ciliary defects can also be caused by acquired factors. Therefore, it is important to distinguish between primary and secondary structural and functional disorders. Electron microscopic analysis is the only option for diagnosing ultrastructural defects. Electron microscopic assessment in diagnosing PCD should be carried out only after excluding other probable causes of respiratory tract infections and after the appropriate treatment of infections responsible for secondary ciliary defects. In this manner, false-positive diagnosis of PCD and high cost can be prevented.

Key words: Cilia, electron microscopy, ciliary dyskinesia, ciliary orientation

Anahtar Kelimeler

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Silya bozukluklarında elektron mikroskopi

Öz

Primer silyer diskinezi (PSD) silyanın konjenital bozuklukları sonucunda ortaya çıkan hastalıkları kapsamaktadır. Teşhis, klinik öykü, anormal silyer vuruş frekansı ve geçirimli elektron mikroskobunda izlenen spesifik aksonem bozuklukları ile konulmaktadır. PSD teşhisinde klinik ve ışık mikroskopisi ile tanı konulamayan vakalarda elektron mikroskopi değerlendirmesi önem kazanmaktadır. Silyadaki mikrotübül bozukluğu, dinein kolu eksikliği, oryantasyon bozukluğu gibi anomaliler ışık mikroskobu ile tespit edilemez; bu gibi bozukluklarda elektron mikroskopi tek seçenektir. Tekrarlayan solunum yolu enfeksiyonu olan hastalarda silyer oryantasyon ölçümü yapılmalıdır; çünkü bazı hastalarda tek bozukluk bu olabilmektedir. Silyer bozukluklar primer (kalıtsal) ya da enfeksiyon, sigara ve hava kirliliği gibi çevresel faktörlerin neden olduğu sekonder (edinsel) bozukluklar olarak sınıflandırılmaktadır. Epitel hücre ve silya bozuklukları edinsel nedenlerden dolayı da ortaya çıkabileceğinden, PSD’nin teşhisi güç olabilmektedir. Bu nedenle primer ve sekonder yapısal ve fonksiyonel silya bozuklukları arasında ayrım yapmak önemlidir. Elektron mikroskopik analiz ince-yapısal bozuklukların ayrımını yapmada tek seçenek olarak karşımıza çıkmaktadır. PSD teşhisinde kullanılan elektron mikroskopik değerlendirme, yalnızca tekrarlayan hava yolu enfeksiyonlarının tüm diğer olası nedenleri ekarte edildikten ve sekonder silyer bozukluklardan sorumlu enfeksiyonların uygun tedavisinden sonra kullanılmalıdır. Böylelikle yanlış PSD teşhisi ve yüksek maliyet önlenebilecektir.

Anahtar Kelimeler : Silya, elektron mikroskopi, silyer diskinezi, silyer oryantasyon 

Anahtar Kelimeler

Silya, elektron mikroskopi, silyer diskinezi, silyer oryantasyon

Kaynakça

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