Yahya Dinnar, Benkova-Petrova Miroslava, Petrov Aleksandar, Hachmeriyan Mari
Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria.
Laboratory of Medical Genetics, UMHAT "Sv. Marina" Varna, Hristo Smirnenski Blvd 1, 9000 Varna, Bulgaria.
Reports (MDPI). 2025 Feb 9;8(1):20. doi: 10.3390/reports8010020.
: 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. : 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 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. : 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.
纤毛病是由初级纤毛受损引起的一组异质性疾病。纤毛运动障碍可导致广泛的临床表现，包括不孕、左右不对称缺陷、肺部感染等。一些与肾脏疾病相关的纤毛病包括肾单位肾痨、多囊病和肾细胞癌。由于它们在临床和遗传上具有多样性，其诊断可能需要更长时间以及一项或多项基因检测。：我们报告了一例43岁男性患者，其病史广泛，包括不明原因的肾结石、支气管扩张、自幼反复发作的中耳炎、阑尾结石和不孕。经过长期的各种临床检查并咨询了不同专家后，他被转介到遗传咨询门诊。全外显子组测序（WES）在基因-NM_031924.8:c.205-2A>G中发现了一个纯合致病变异，随后通过桑格测序得到证实。在广泛使用的数据库中，该变异被归类为致病变异，与原发性纤毛运动障碍相关。这种疾病可能表现不典型，患者可能会经历漫长的诊断过程。认识到其临床和遗传异质性可以缩短诊断时间。：将这种疾病纳入鉴别诊断并让医学/临床遗传学部门的专家参与多学科团队至关重要。通过WES或其他分子遗传学方法进行基因确认对于治疗方法以及为患者及其家属充分开展遗传咨询至关重要。
