Bromiker R, Neeman Z, Bar-Oz B, Avital A, Bar-Ziv J, Springer C
Acta Paediatr. 2002;91(9):1002-5. doi: 10.1080/080352502760272731.
Primary ciliary dyskinesia has been reported as a rare cause of respiratory distress during the neonatal period. This diagnosis is readily suspected in cases presenting with accompanying situs inversus. The aim of this study was to report on a pair of siblings with primary ciliary dyskinesia. The first case was an infant diagnosed with primary ciliary dyskinesia at the age of 14 d despite lack of situs inversus. The infant had presented with respiratory distress and atelectasis almost immediately after birth. The sibling, born one year later, presented with situs inversus, therefore allowing diagnosis of primary ciliary dyskinesia to be made immediately after birth.
Diagnosis of primary ciliary dyskinesia should be considered in newborns presenting with respiratory distress or atelectasis. Early institution of an adequate treatment programme and follow-up may reduce or prevent further complications of the disease.
据报道，原发性纤毛运动障碍是新生儿期呼吸窘迫的罕见原因。在伴有内脏反位的病例中，很容易怀疑这种诊断。本研究的目的是报告一对患有原发性纤毛运动障碍的兄弟姐妹。第一例是一名婴儿，尽管没有内脏反位，但在14天时被诊断为原发性纤毛运动障碍。该婴儿出生后几乎立即出现呼吸窘迫和肺不张。一年后出生的同胞兄弟姐妹出现内脏反位，因此出生后立即诊断为原发性纤毛运动障碍。
对于出现呼吸窘迫或肺不张的新生儿，应考虑原发性纤毛运动障碍的诊断。尽早制定适当的治疗方案并进行随访，可能会减少或预防该疾病的进一步并发症。
