Respiratory Distress in the Newborn with Primary Ciliary Dyskinesia

Abstract

Primary ciliary dyskinesia (PCD) is inherited in a predominantly autosomal recessive manner with over 45 currently identified causative genes. It is a clinically heterogeneous disorder that results in a chronic wet cough and drainage from the paranasal sinuses, chronic otitis media with hearing impairment as well as male infertility. Approximately 50% of patients have situs inversus totalis. Prior to the development of chronic oto-sino-pulmonary symptoms, neonatal respiratory distress occurs in more than 80% of patients as a result of impaired mucociliary clearance and mucus impaction causing atelectasis and lobar collapse. Diagnosis is often delayed due to overlapping symptoms with other causes of neonatal respiratory distress. A work up for PCD should be initiated in the newborn with compatible clinical features, especially those with respiratory distress, consistent radiographic findings or persistent oxygen requirement and/or organ laterality defects.

Keywords: neonatal respiratory distress; primary ciliary dyskinesia.

Figure 1

Ciliary defects as seen on transmission electron microscopy. Legend: Electron microscopy findings in primary ciliary dyskinesia. Diagnostic ciliary electron microscopy findings in primary ciliary dyskinesia. Normal ciliary ultrastructure (A), Outer and inner dynein arm defect (B), Outer dynein arm defect (C), Inner dynein arm defect alone (D), Inner dynein arm defect with microtubule disorganization (E). * Inner dynein arm defects alone are quite rare as a cause of PCD and usually due to secondary artifact. ODA: Outer Dynein Arm, IDA: Inner Dynein Arm, MTD: Microtubular Disorganizatio. Reprinted with permission from Shapiro et al. [8].

Figure 2

Machogu et al. Laterality defects found on chest radiography of patients with PCD. (A) Normal; Left sided cardiac apex with left sided stomach and right sided liver (B) Situs Ambiguous; Left sided cardiac apex with right sided stomach and left sided liver (C) Situs Inversus Totalis; right sided cardiac apex with right sided stomach and left sided liver.

Figure 3

Primary Ciliary Dyskinesia Suggested Diagnostic Algorithm. Reprinted with permission of the American Thoracic Society. Copyright © 2020 American Thoracic Society. All rights reserved. Shapiro AJ, et al. Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018; 197(12): e24–e39. The American Journal of Respiratory and Critical Care Medicine is an official journal of the American Thoracic Society.