Fadl Sarrah M, Kafaji Mustafa, Abdalla Hesham, Dabbour Maryam A, Al-Shamrani Abdullah
Pediatric Pulmonology, Prince Sultan Military Medical City, Riyadh, SAU.
General Surgery, College of Medicine, Alfaisal University, Riyadh, SAU.
Cureus. 2023 May 22;15(5):e39344. doi: 10.7759/cureus.39344. eCollection 2023 May.
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive inherited heterogeneous respiratory disorder. The diagnosis of PCD is challenging and necessitates a multi-test diagnostic approach because there are no gold standard diagnostic tests available to confirm PCD. However, rapid advancement in understanding the molecular genetic basis of PCD has greatly improved PCD diagnosis. Studies have reported that PCD may increase the risk of rheumatoid arthritis, congenital heart disease, severe esophageal diseases, and others. Therefore, the present study aimed to assess the risk of type 1 diabetes mellitus (T1DM) in a genetically confirmed PCD patient. In this case study, an 11-year-old girl with autosinopulmonary infections and her younger brother were diagnosed with PCD. The patient's DNA was extracted for next-generation exome sequencing. Our analysis of the exome sequencing data revealed the PCD-causing genetic variant p.Glu286del in the RSPH9 gene on chromosome 6p21.1. In addition, the biochemical findings at the time of patient's admission showed elevated glutamic acid decarboxylase antibodies, HbA1c, and ketone levels, with impaired glucose tolerance, which indicated the presence of T1DM. In conclusion, the clinical features, biochemical reports, and genetic testing confirmed PCD in this patient and the possible association between PCD and T1DM.
原发性纤毛运动障碍（PCD）是一种罕见的常染色体隐性遗传性异质性呼吸系统疾病。PCD的诊断具有挑战性，需要采用多种检测的诊断方法，因为目前尚无金标准诊断测试来确诊PCD。然而，在理解PCD分子遗传基础方面的快速进展极大地改善了PCD的诊断。研究报告称，PCD可能会增加类风湿性关节炎、先天性心脏病、严重食管疾病等的发病风险。因此，本研究旨在评估经基因确诊的PCD患者患1型糖尿病（T1DM）的风险。在本病例研究中，一名患有自限性肺部感染的11岁女孩及其弟弟被诊断为PCD。提取了该患者的DNA用于下一代外显子组测序。我们对外显子组测序数据的分析揭示了位于6号染色体p21.1上的RSPH9基因中导致PCD的基因变异p.Glu286del。此外，患者入院时的生化检查结果显示谷氨酸脱羧酶抗体、糖化血红蛋白（HbA1c）和酮体水平升高，葡萄糖耐量受损，这表明存在T1DM。总之，临床特征、生化报告和基因检测证实了该患者患有PCD以及PCD与T1DM之间可能存在的关联。
