Division of Pediatric Pulmonary, Allergy and Sleep Medicine, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Division of Pediatric Pulmonology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Pediatr Pulmonol. 2022 Sep;57(9):2269-2272. doi: 10.1002/ppul.25989. Epub 2022 Jun 2.
The diagnosis of primary ciliary dyskinesia (PCD) is made through a combination of clinical features supported by a panel of diagnostic tests. Our cases highlight the similarities in the clinical presentation of patients with the specific immunodeficiency activated phosphatidylinositol 3-kinase delta syndrome 1 (or PIK3CD-related disorder) and PCD. We highlight the importance of repeating nasal nitric oxide testing when PCD has not been confirmed by genetic or ciliary electron micrograph analysis in the setting of an expanded suppurative lung disease differential that includes considerations for immunodeficiency as well as PCD.
原发性纤毛运动障碍（PCD）的诊断是通过临床特征与一系列诊断测试相结合得出的。我们的病例突出了具有特定免疫缺陷激活的磷脂酰肌醇 3-激酶 δ 综合征 1（或 PIK3CD 相关疾病）和 PCD 患者的临床表现的相似性。我们强调了在扩展的化脓性肺病鉴别诊断中，当遗传或纤毛电子显微镜分析未证实 PCD 时，重复鼻一氧化氮测试的重要性，该鉴别诊断包括对免疫缺陷以及 PCD 的考虑。
