Multifaceted Primary Ciliary Dyskinesia—A Case Report

TL;DR

A 43-year-old man with multiple unexplained health issues was diagnosed with primary ciliary dyskinesia after genetic testing revealed a pathogenic variant in the RSPH3 gene.

Contribution

This case report highlights the importance of genetic testing in diagnosing atypical presentations of primary ciliary dyskinesia.

Findings

A homozygous pathogenic variant in the RSPH3 gene was identified through whole exome sequencing.

The patient's diverse symptoms were linked to primary ciliary dyskinesia, emphasizing the need for genetic evaluation in complex cases.

Early genetic confirmation can improve therapeutic approaches and genetic counseling for patients and families.

Abstract

Background and Clinical Significance: Ciliopathies are a heterogeneous group of diseases caused by damage to the primary cilium. Disorders of ciliary motility can lead to a wide range of clinical manifestations, including infertility, lateralization defects, lung infections, and more. Some ciliopathies associated with kidney disease include nephronophthisis, polycystic disease, and renal cell carcinoma. Since they are clinically and genetically diverse, their diagnosis may require a longer time and one or more genetic assays. Case presentation: We present the case of a 43-year-old man with a wide anamnesis, including unexplained nephrolithiasis, bronchiectasis, recurrent otitis media since infancy, appendicular lithiasis, and infertility. After a long history of various clinical examinations and consultations with diverse specialists, he was referred to genetic counseling. Whole exome sequencing (WES) revealed a homozygous pathogenic variant in the RSPH3 gene—NM_031924.8:c.205-2A>G—which was later confirmed through Sanger sequencing. It is classified as pathogenic in widely used databases and is associated with primary ciliary dyskinesia. This condition can present nontypically, and the patients might suffer from an extensive diagnostic odyssey. Being mindful of its clinical and genetic heterogeneity can shorten the period until diagnosis. Conclusions: It is essential to have this condition included in differential diagnosis and involve specialists from the medical/clinical genetic department in a multidisciplinary team. Genetic confirmation through WES or another molecular genetic method is crucial for the therapeutic approach and to adequately perform genetic counseling for patients and their families.

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