Sun Lingjun, Xu Meiqi, Deng Xiaoying, Liu Xiaoyan
Department of Nephrology, The Second Hospital of Dalian Medical University, Dalian, Liaoning, China.
Department of Clinical Laboratory, The Second Hospital of Dalian Medical University, Dalian, Liaoning, China.
Front Med (Lausanne). 2025 Apr 29;12:1579732. doi: 10.3389/fmed.2025.1579732. eCollection 2025.
Chronic kidney disease (CKD) is a globally prevalent condition characterized by high morbidity and a progressive course that often culminates in end-stage renal disease (ESRD), necessitating dialysis or kidney transplantation. In recent years, genetic factors have received increasing attention in the pathogenesis of CKD, particularly among patients with unexplained renal dysfunction. Genetic screening has emerged as a valuable diagnostic tool. Mutations in the gene, a pathogenic variant associated with ciliopathy, have been implicated in severe renal impairment. This study presents a case analysis that explores the impact of mutations on kidney function and their potential clinical significance.
We report a case of a 21-year-old male who developed proteinuria at the age of 15 without an apparent cause. Over the subsequent 6 years, his serum creatinine levels gradually increased, ultimately progressing to ESRD, accompanied by complications such as hypertension and secondary hyperparathyroidism. Imaging studies revealed bilateral renal cysts and a congenital bicuspid aortic valve. Whole-exome sequencing identified compound heterozygous mutations in [c.253C > T (p.R85*) and c.143 T > C (p.L48P)], consistent with an autosomal recessive inheritance pattern. Family analysis indicated that each parent carried one of the mutations. The combination of clinical and genetic findings suggests that the patient's renal insufficiency may be attributed to mutations, highlighting their potential role in the progression of CKD.
This study presents a severe case of renal dysfunction attributed to mutations in the gene, thereby expanding the clinical phenotypic spectrum associated with this gene. Mutations in ciliopathy-related genes may contribute to proteinuria and renal failure by disrupting the polarization and functionality of renal tubular epithelial cells. For young patients with unexplained CKD, genetic testing can serve as an early diagnostic tool to identify the underlying etiology and facilitate personalized treatment strategies. Future research on -related nephropathy should aim to further elucidate its pathogenic mechanisms and explore potential therapeutic targets to enhance patient outcomes and advance precision medicine.
慢性肾脏病（CKD）是一种全球普遍存在的疾病，其特征为高发病率和渐进性病程，常最终发展为终末期肾病（ESRD），需要进行透析或肾脏移植。近年来，遗传因素在CKD发病机制中的作用受到越来越多的关注，尤其是在不明原因肾功能不全的患者中。基因筛查已成为一种有价值的诊断工具。该基因的突变是一种与纤毛病相关的致病变异，与严重肾功能损害有关。本研究通过病例分析探讨了该基因突变对肾功能的影响及其潜在的临床意义。
我们报告一例21岁男性患者，15岁时无明显诱因出现蛋白尿。在随后的6年里，他的血清肌酐水平逐渐升高，最终发展为ESRD，并伴有高血压和继发性甲状旁腺功能亢进等并发症。影像学检查显示双侧肾囊肿和先天性二叶主动脉瓣。全外显子测序在该基因中鉴定出复合杂合突变[c.253C>T（p.R85*）和c.143T>C（p.L48P）]，符合常染色体隐性遗传模式。家系分析表明，父母各携带其中一个突变。临床和基因检查结果相结合表明，患者的肾功能不全可能归因于该基因突变，突出了其在CKD进展中的潜在作用。
本研究报告了一例由该基因突变导致的严重肾功能不全病例，从而扩展了与该基因相关的临床表型谱。纤毛病相关基因的突变可能通过破坏肾小管上皮细胞的极化和功能导致蛋白尿和肾衰竭。对于不明原因CKD的年轻患者，基因检测可作为早期诊断工具，以确定潜在病因并促进个性化治疗策略。未来关于该基因相关肾病的研究应旨在进一步阐明其致病机制，并探索潜在的治疗靶点，以改善患者预后并推进精准医学。
