[Primary ciliary dyskinesia. Clinical presentation and diagnosis]

Primary ciliary dyskinesia remains underdiagnosed due to variable clinical expression. While respiratory symptoms are common, their nonspecific nature complicates early detection. Prior research has shown that situs inversus occurs in a subset of cases, but its absence does not rule out the condition. Diagnostic challenges persist because no single test provides definitive results. Some studies have explored nasal brushing as a potential screening tool, though its reliability remains debated. Limited data exist on the combined use of clinical features and microscopic analysis. No standardized diagnostic criteria have been universally accepted. This gap motivated the current analysis of a large case series to clarify diagnostic patterns.

The goal was to identify reliable indicators of primary ciliary dyskinesia by analyzing clinical and diagnostic data from a single-center cohort. Researchers aimed to determine which features consistently appear in diagnosed cases. They focused on respiratory symptoms, family history, and imaging findings. The study sought to clarify the role of nasal brushing in diagnosis. They also wanted to assess the value of electron microscopy in confirming structural defects. The team aimed to propose a diagnostic framework based on observed patterns. No prior work had resolved how to combine clinical and microscopic evidence. This study aimed to fill that gap by examining a large group of patients.

The research team reviewed medical records of 35 confirmed PCD cases. They analyzed clinical histories, imaging reports, and test results. Nasal brushings were performed on all patients using special light microscopy. Electron microscopy was used in selected cases to examine ciliary ultrastructure. Mucociliary clearance was assessed using isotopic techniques in some patients. The team compared clinical features across diagnosed and undiagnosed cases. They evaluated the frequency of situs inversus, respiratory infections, and infertility. The study focused on identifying patterns that distinguish PCD from other conditions.

Among 145 patients with suspected PCD, 35 were confirmed. Respiratory symptoms were present in all diagnosed cases. Situs inversus occurred in 12 patients (34%). Nasal brushing showed ciliary abnormalities in all confirmed cases. Electron microscopy confirmed structural defects in selected cases. Infections typically began early in life in most patients. Family history of PCD was reported in some cases. Consanguinity was observed in a subset of patients. The combination of clinical features and microscopic findings provided diagnostic clarity.

The authors suggest that early-onset respiratory symptoms are a key indicator of PCD. They propose that nasal brushing with special light microscopy can serve as a reliable initial test. Electron microscopy remains essential for confirming structural defects. Situs inversus appears in a minority of cases but supports the diagnosis when present. The presence of consanguinity and family history increases suspicion. Infertility is a notable but less common feature. The researchers emphasize the need for a combined diagnostic approach. Their findings support the use of clinical and microscopic evidence together for diagnosis.