Department of Pediatrics, Hospital Israelita Albert Einstein, São Paulo, Brazil.
Department of Pediatrics, University of São Paulo Medical School, São Paulo, Brazil.
Am J Case Rep. 2020 Jun 11;21:e921949. doi: 10.12659/AJCR.921949.
BACKGROUND Primary ciliary dyskinesia (PCD) is a disease characterized by motor ciliary dysfunction, which leads to the accumulation of secretions in the lower airways and, consequently, to atelectasis and repeated infections. During the neonatal period, diagnosis can be difficult because the symptoms are frequently associated with other respiratory diseases common in neonates. The laterality defects should warn the clinician of the need for further investigation using clinical criteria, but the confirmation depends on a genetic test. CASE REPORT The objective of this report is to present a case of PCD manifesting in the neonatal period that was diagnosed due to respiratory failure associated with recurrent atelectasis and situs inversus totalis. CONCLUSIONS This disease is not well known by neonatologists, but early diagnosis decreases morbidity and improves patient quality of life.
原发性纤毛运动障碍(PCD)是一种以动力性纤毛功能障碍为特征的疾病,导致下呼吸道分泌物积聚,进而导致肺不张和反复感染。在新生儿期,诊断可能较为困难,因为症状常与新生儿常见的其他呼吸道疾病有关。侧位缺陷应提醒临床医生需要使用临床标准进一步检查,但确诊依赖于基因检测。
本报告的目的是介绍一例在新生儿期表现出的 PCD 病例,该病例因反复发生的肺不张和全内脏转位引起的呼吸衰竭而被诊断。
这种疾病不为新生儿科医生所熟知,但早期诊断可降低发病率并提高患者的生活质量。