Primary Ciliary Dyskinesia—Current Diagnostic and Therapeutic Approach

TL;DR

This paper reviews the diagnosis and treatment of primary ciliary dyskinesia, a rare genetic disorder affecting cilia function.

Contribution

The paper provides an updated overview of diagnostic techniques and therapies for PCD, emphasizing the need for interdisciplinary care.

Findings

No single diagnostic test for PCD has both high sensitivity and specificity, requiring a multi-step approach.

New experimental therapies like gene and mRNA treatments are being explored alongside traditional care.

Early diagnosis and comprehensive care are critical for managing PCD effectively.

Abstract

Primary ciliary dyskinesia (PCD) is a rare, inherited disease with a complex genetic etiology, leading to ciliary dysfunction and impaired mucociliary clearance. This paper presents the current state of knowledge regarding the clinical presentation, diagnostic approaches, and therapeutic strategies in PCD. The role of genetic testing, ultrastructural analysis of cilia, and modern methods such as high-speed video microscopy (HSVA), nasal nitric oxide (nNO) measurement, and immunofluorescence is discussed. The importance of a multi-step diagnostic process is emphasized, given the absence of a single test with both high sensitivity and specificity. Current treatment options—including respiratory physiotherapy, infection management, and control of ENT symptoms—are reviewed, alongside new experimental approaches such as gene and mRNA therapies. This paper highlights the need for early diagnosis and comprehensive, interdisciplinary care for patients with PCD.