Department of General Pediatrics, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany.
Department of General Pediatrics, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany.
Presse Med. 2023 Sep;52(3):104171. doi: 10.1016/j.lpm.2023.104171. Epub 2023 Jul 27.
Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and genetically heterogeneous, with more than 50 genes involved. Thanks to genetic, clinical, and functional characterization, immense progress has been made in the understanding and diagnosis of PCD. Nevertheless, it is underdiagnosed due to the heterogeneous phenotype and complexity of diagnosis. This review aims to help clinicians navigate this heterogeneous group of diseases. Here, we describe the broad spectrum of phenotypes associated with PCD and address pitfalls and difficult-to-interpret findings to avoid misinterpretation.
Review of literature CONCLUSION: PCD diagnosis is complex and requires integration of history, clinical picture, imaging, functional and structural analysis of motile cilia and, if available, genetic analysis to make a definitive diagnosis. It is critical that we continue to expand our knowledge of this group of rare disorders to improve the identification of PCD patients and to develop evidence-based therapeutic approaches.
原发性纤毛运动障碍（PCD，ORPHA：244）是一组罕见的遗传性疾病，其特征为运动纤毛功能障碍。它在表型和遗传上具有异质性，涉及 50 多个基因。由于遗传、临床和功能特征的阐明，在理解和诊断 PCD 方面取得了巨大进展。然而，由于表型的异质性和诊断的复杂性，它仍被漏诊。本文旨在帮助临床医生了解这组异质性疾病。在这里，我们描述了与 PCD 相关的广泛表型，并讨论了陷阱和难以解释的发现，以避免误诊。
文献复习
PCD 的诊断很复杂，需要整合病史、临床表现、影像学、运动纤毛的功能和结构分析，如果可能的话，还需要进行遗传分析，以做出明确的诊断。我们必须继续扩展对这组罕见疾病的认识，以提高 PCD 患者的识别能力，并制定基于证据的治疗方法。
