成人肾小球囊肿病3例临床分析  

Clinical analysis of 3 cases of adult glomerulocystic kidney disease.

作　　者：王艳艳[1] 孙丽君[1] 董鸿瑞[1] 王国勤[1] 徐潇漪[1] 程虹[1] WANG Yan-yan;SUN Li-jun;DONG Hongrui;WANG Guo-qin;XU Xiao-yi;CHENG Hong(Division of Nephrology,Beijing Anzhen Hospital,Capital Medical Unicersity,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京安贞医院肾内科,北京100029

出　　处：《中国实用内科杂志》2023年第10期842-846,共5页Chinese Journal of Practical Internal Medicine

基　　金：首都医学发展科研基金(2022-2-2066)。

摘　　要：目的报道3例成人肾小球囊肿病(GCKD),以提高对该病的认识。方法分析北京安贞医院2016至2021年收治3例患者的临床特点、实验室检查及基因测序结果,总结诊疗过程并进行文献复习。结果3例患者均在体检时发现血肌酐高于正常参考值范围,尿检正常或仅有轻微变化。均无遗传病家族史,出生时体重均偏低,其中2例患者为瘦小体型。肾穿刺活检显示>5%肾小球囊高度扩张。对已知的GCKD相关基因突变(如HNF-1β、UROM、TSC2、NPHP、PKD1、PKD2、PKDH1)进行测序,未发现异常。目前随访1.3~5.5年,3例患者血肌酐较基线无明显变化。结论临床上对于肾功能异常原因不清和(或)尿化验轻微改变,尤其是伴随有低出生体重史及体型瘦小的患者,应积极行肾穿刺检查。肾脏病理是诊断GCKD的金标准,遗传咨询和基因突变的检测有助于GCKD的诊断及分类。Objective Three cases of glomerulocystic kidney disease(GCKD)in adults are reported to improve the understanding of the disease.Methods The clinical characteristics,laboratory examination and gene sequencing results of three patients in Beijing Anzhen Hospital from 2016 to 2021 were analyzed.The diagnosis and treatment process were summarized and the related literature was reviewed.Results High serum creatinine was found in all three patients during physical examination,and urine test was normal or only slightly changed.There was no family history of hereditary diseases.Three patients were born with low weight.Two patients were thin and small.Renal biopsy showed the Bowman space were highly dilated and greater than 5%.The known gene mutations(such as HNF-1β,UROM,TSC2,NPHP,PKD1,PKD2 and PKDH1)were sequenced and no abnormality was found.At present,the longest follow-up period is 5.5 years,and the serum creatinine of three patients was stable.Conclusion In clinical practice,renal biopsy should be actively performed for patients with unclear causes of renal dysfunction and/or slight changes in urine test,especially for those with low birth weight history and small size.Renal pathology is the gold standard for diagnosing GCKD.Genetic counseling and gene mutation detection are helpful for the diagnosis and classification of GCKD.

关 键 词：肾小球囊肿病 肾穿刺活检 成人 基因检测 

分 类 号：R692.6[医药卫生—泌尿科学]