WDR19基因所致局灶节段性肾小球硬化症1例并文献复习  

Focal segmental glomerulosclerosis caused by WDR19 gene: A case report and literature review

作　　者：王文丰 张周 孙曼玉 宋洁 Wang Wenfeng;Zhang Zhou;Sun Manyu;Song Jie(Department of Nephrology,Characteristic Medical Center of Chinese People’s Armed Police Forces,Tianjin 300162,China)

机构地区：[1]中国人民武装警察部队特色医学中心肾病学科,天津300162

出　　处：《国际遗传学杂志》2024年第2期142-145,共4页International Journal of Genetics

摘　　要：目的通过探讨由WDR19基因导致的局灶节段性肾小球硬化症(focal segmental glomerulosclerosis,FSGS)的诊断,进一步认识遗传性FSGS的临床特点。方法对1例由WDR19基因所致FSGS的临床资料进行回顾性分析,并复习相关文献。结果WDR19基因所致的遗传性FSGS,临床造成的24h尿蛋白量较大,但对于激素治疗的反应较为明显。但在诊治过程中应当注意有无合并肝脏、骨代谢方面的合并症,综合系统地评估患者情况。结论WDR19基因是一种较为罕见的遗传性FSGS致病基因,部分学者将其归类为FSGS的"拟表型基因"。临床医生当遇到尿蛋白过高以及有相关家族倾向的患者,应当予以基因诊断,同时关注到肾外其他脏器系统特异性病变,综合进行评估治疗。Objective To study the diagnosis of focal segmental glomerulosclerosis(FSGS)caused by WDR19 gene,and to further understand the clinical characteristics of hereditary FSGS.Methods The clinical data of a case of FSGS caused by WDR19 gene were analyzed retrospectively,and the related literature was reviewed.Results The hereditary FSGS caused by WDR19 gene resulted in a large amount of 24-hour urine protein,but the response to hormone therapy was obvious.However,in the process of diagnosis and treatment,we should pay attention to whether there are complications in liver and bone metabolism,and comprehensively and systematically evaluate the patient’s situation.Conclusion WDR19 gene is a rare hereditary FSGS pathogenic gene,and some scholars classified it as"phenocopy gene"of FSGS.Clinicians should make genetic diagnosis when they encounter patients with high urinary protein and related family tendencies,and pay attention to the specific diseases of other organs outside the kidney,and make comprehensive evaluation and treatment.

关 键 词：WDR19基因 局灶节段性肾小球硬化 足细胞病 

分 类 号：R692.6[医药卫生—泌尿科学]