Luo Di-Yi, Long Yan, Liu Li-Li, Chen Xiu-Ying, Guo Yan-Nan
Department of Pediatric Urinary Disease Center Nursing, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Department of Pediatric Nephrology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
SAGE Open Med Case Rep. 2024 Dec 11;12:2050313X241305905. doi: 10.1177/2050313X241305905. eCollection 2024.
To report a novel variation in the TRIM8 gene in a Chinese patient who developed focal segmental glomerulosclerosis (FSGS) and neurogenic bladder. Retrospective analysis of the clinical manifestations, laboratory results, renal biopsy results, and genetic data of the patient with FSGS complicated with neurogenic bladder. The patient was a 6-year and 8-month-old Chinese Zang ethnic boy with low-set ears, widely-spaced eyes (inner canthal distance exceeds the 95th percentile of normal inner canthal distance), a small jaw, and a short neck. He could not walk and speak complete sentences until age of 2 years. At age of 4 years, the boy was noticed to have daytime urinary incontinence, hesitancy, and urgency. Combined with urodynamic examination and magnetic resonance imaging examination results, the patient was diagnosed with a neurogenic bladder. Proteinuria was also found. The levels of uric acid, serum creatinine, and blood urea nitrogen were increased. Vitamin D deficiency, hypokalemia, hypocalcium, and hypophosphorus were detected. Urinary ultrasound showed shrinkage of both kidneys. After hospital admission, he was diagnosed with FSGS and stage 3b chronic kidney disease (CKD). Eight months after the first diagnosis, the disease progressed to stage 5 CKD. Gene analysis using whole-exome capture and sequencing revealed a heterozygous pathogenic variation in the TRIM8 gene [NM_030912.2.2:c.1484G>A (p.RP495 *)]. This pathogenic TRIM8 variation and the combined clinical manifestations of neurogenic bladder and FSGS have not been previously reported in the literature. We report a rare Chinese case of FSGS and neurogenic bladder associated with a novel heterozygous variation in the TRIM8 gene. The findings expanded the clinical spectrum of TRIM8 pathogenic variations.
报告一名患有局灶节段性肾小球硬化（FSGS）和神经源性膀胱的中国患者的TRIM8基因新变异。对FSGS合并神经源性膀胱患者的临床表现、实验室检查结果、肾活检结果及基因数据进行回顾性分析。该患者为一名6岁8个月大的中国藏族男孩，双耳低位、眼距宽（内眦间距超过正常内眦间距的第95百分位数）、小下颌和短颈。他直到2岁才会走路和说完整的句子。4岁时，该男孩被发现有白天尿失禁、排尿犹豫和尿急。结合尿动力学检查和磁共振成像检查结果，诊断为神经源性膀胱。还发现蛋白尿。尿酸、血清肌酐和血尿素氮水平升高。检测到维生素D缺乏、低钾血症、低钙血症和低磷血症。泌尿系统超声显示双肾萎缩。入院后，他被诊断为FSGS和3b期慢性肾脏病（CKD）。首次诊断8个月后，疾病进展至5期CKD。使用全外显子捕获和测序进行基因分析，发现TRIM8基因存在杂合致病性变异[NM_030912.2.2:c.1484G>A（p.RP495*）]。这种致病性TRIM8变异以及神经源性膀胱和FSGS的联合临床表现此前未见文献报道。我们报告了一例罕见的中国FSGS和神经源性膀胱病例，与TRIM8基因的一种新的杂合变异相关。这些发现扩展了TRIM8致病性变异的临床谱。
