常染色体显性遗传性多囊肾病临床及基因突变分析

Clinical features and gene analysis of autosomal dominant polycystic kidney disease

目的 分析常染色体显性遗传性多囊肾病(ADPKD)患者临床特征及基因突变特点。方法 入选ADPKD患者23例,收集临床数据,并进行家系调查;抽取外周血经高通量测序方法进行多囊肾基因检测。结果 23例ADPKD患者主要临床表现为腰腹痛、血尿、感染,肾功能不全;与女性患者相比,男性ADPKD患者血尿酸水平明显增高;基因检测PKD1基因突变19例;PKD2基因突变4例。同处于慢性肾脏病(CKD)5期的ADPKD患者,PKD1基因突变患者血红蛋白明显低于PKD2基因突变患者(65.89±13.59 vs 97.5±17.02,P<0.01)。结论 ADPKD可进展至肾功能衰竭,基因检测有助于早期诊断和预后评估,终末期ADPKD患者,PKD1基因突变患者预后更差。

Objective To analyze the clinical characteristics and gene mutation types of autosomal dominant polycystic kidney disease(ADPKD). Methods A total of 23 patients with ADPKD were enrolled in the present study. The clinical characteristics were collected, and family investigations were conducted. Peripheral blood was extracted for polycystic kidney gene detection by high-throughput sequencing method. Results The main clinical manifestations of ADPKD were abdominal pain, hematuria, infection and renal insufficiency. Nineteen PKD1 gene mutations and four case of PKD2 mutation were detected among 23 patients. In addition, patients with chronic kidney disease(CKD) stage 5 and PKD1 gene mutation have significantly lower hemoglobin levels as compared to those with PKD2 gene mutation(65.89±13.59 vs 97.5±17.02, P<0.01).Conclusion ADPKD can progress to renal failure. PKD1 mutations have a worse prognosis in patients with end-stage ADPKD,indicating that genetic testing can be vital for the early diagnosis and predict the prognosis of ADPKD.