Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
J Appl Genet. 2011 Feb;52(1):39-51. doi: 10.1007/s13353-010-0005-1. Epub 2010 Dec 2.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the impaired functioning of ciliated cells. Its diagnosis is based on the analysis of the structure and functioning of cilia present in the respiratory epithelium (RE) of the patient. Abnormalities of cilia caused by hereditary mutations closely resemble and often overlap with defects induced by the environmental factors. As a result, proper diagnosis of PCD is difficult and may require repeated sampling of patients' tissue, which is not always possible. The culturing of differentiated cells and tissues derived from the human RE seems to be the best way to diagnose PCD, to study genotype-phenotype relations of genes involved in ciliary dysfunction, as well as other aspects related to the functioning of the RE. In this review, different methods of culturing differentiated cells and tissues derived from the human RE, along with their potential and limitations, are summarized. Several considerations with respect to the factors influencing the process of in vitro differentiation (cell-to-cell interactions, medium composition, cell-support substrate) are also discussed.
原发性纤毛运动障碍（PCD）是一种罕见的遗传疾病，由纤毛细胞功能障碍引起。其诊断基于对患者呼吸道上皮（RE）中纤毛的结构和功能进行分析。遗传突变引起的纤毛异常与环境因素引起的缺陷非常相似，且经常重叠。因此，PCD 的正确诊断较为困难，可能需要反复采集患者的组织样本，但这并不总是可行的。培养源自人 RE 的分化细胞和组织似乎是诊断 PCD、研究参与纤毛功能障碍的基因的基因型-表型关系以及与 RE 功能相关的其他方面的最佳方法。在这篇综述中，总结了培养源自人 RE 的分化细胞和组织的不同方法，以及它们的潜力和局限性。还讨论了影响体外分化过程的因素（细胞间相互作用、培养基成分、细胞支持底物）的一些注意事项。
