To summarize the characteristics of urinary system symptoms in 11 patients with neuronal intranuclear inclusion disease (NIID), in order to improve the understanding of the disease. A retrospective analysis was performed on 15 patients with NIID of the First Affiliated Hospital of Zhengzhou University, which were enrolled between January, 2020 and December, 2022. All of them were confirmed by NOTCH2NLC gene and pathology. GGC repeated expansion mutationof NOTCH2NLC gene, the pathogenic gene of NIID, was detected by gene test, and eosinophilic intranuclear inclusions were detected by skin pathological biopsy. 4/15 patients started with urinary symptoms, 11/15 patients with NIID combined with different degrees of urinary system symptoms, manifested as frequent urination, weak urination, incontinence and other neurogenic bladder symptoms, and the serious patients due to long-term urinary retention, secondary ureteral dilation, hydronephrosis, even renal failure, some patients with urinary system symptoms may be earlier than other systems.
总结以泌尿系统症状起病的11例神经元核内包涵体病（NIID）患者的泌尿系统症状特点，以提高对该病的诊治水平。回顾性分析郑州大学第一附属医院2020年1月至2022年12月收治的15例NIID患者的临床资料，患者均经过NOTCH2NLC基因和病理确诊，基因检测可见NIID的致病基因NOTCH2NLC基因的GGC重复扩展突变，皮肤病理活检可见细胞核内嗜酸性包涵体。其中11例合并有泌尿系统症状，4例患者以泌尿系统症状为首发症状，根据受累程度不同，表现为尿频、小便无力、尿失禁等神经源性膀胱症状，严重的患者因长期尿潴留，继发输尿管扩张、肾积水，甚至肾功能衰竭，部分患者泌尿系统症状发病可早于其他系统。.