Retinitis pigmentosa and bronchiectasis: a case report on a rare association suggestive of a common underlying primary ciliary dyskinesia (PCD).

P J De Brauwer, P Blaise, G Hermans, V Boniver, P Bartsch, J M Rakic
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Abstract

We describe a case of retinitis pigmentosa, associated with bronchiectasis, as the first sign of primary ciliary dyskinesia (PCD). Only a few cases were described in the literature and the association of both diseases is not obvious at first sight, although a common ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina seems to be the common factor. It is important to recognize the association and to question patients with retinitis pigmentosa about their respiratory functions, because an early diagnosis of PCD can prevent recurrent infections and development of bronchiectasis with daily physiotherapy.

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视网膜色素变性和支气管扩张:一个罕见的关联提示共同潜在的原发性纤毛运动障碍(PCD)的病例报告。
我们描述一个病例色素性视网膜炎,与支气管扩张,作为原发性纤毛运动障碍(PCD)的第一个迹象。文献中只有少数病例被描述,尽管呼吸上皮和视网膜感光器的常见纤毛功能障碍似乎是共同的因素,但这两种疾病的联系乍一看并不明显。重要的是要认识到这种关联,并询问色素性视网膜炎患者的呼吸功能,因为PCD的早期诊断可以通过日常物理治疗预防复发性感染和支气管扩张的发展。
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