基因突变对多囊肾去顶减压手术预后的影响

Impacts of polycystic kidney disease 1 gene mutation on the prognosis of decortication surgery

目的研究常染色体显性多囊肾病基因1（PKD1）突变对患者手术预后的影响。方法对1992-2002年间在我院行囊肿去顶减压手术的患者进行PKD1基因的全长检测。比较突变类型以及突变位点对手术预后的影响。结果不同突变类型间肾功能正常时间差异有统计学意义（χ^2=5．359，P=0．021）。近3′端突变患者疼痛缓解时间（53个月±4个月）明显长于近5′端突变患者（39个月±5个月）（χ^2=7．677，P=0．006），近3′端突变患者肾功能正常时间（52．7个月±3．1个月）也明显长于近5′端突变患者（40．2个月±2．6个月）（χ^2=7．963，P=0．005）。结论PKD1基因突变对患者手术预后存在影响，有可能成为临床选择治疗方法的新的指标。

Objective To test whether the germline mutation plays a role in the prognosis of decortication surgery for autosomal dominant polycystic kidney disease （ADPKD） patients. Methods 175 PKD patients, 153 of which had family history, underwent decortication surgery and collection of peripheral blood samples to detect the PKD1 mutation. The correlation between PKD1 mutation and clinical features was analyzed. Results 61 of 175 patients were found to be with PKD1 mutations, i.e. they suffered from ADPKD. The pain relief time of the patients with mutations at the 3′ end （≥7812） [ （53 ±4） months] was significantly longer than that of the patients with mutations at 5＇ end （〈7812） [ （39±5） months, χ^2 = 7.677, P = 0. 006 ]. The time with normal renal function of the patients with mutations at the 3′ end was （ 52.7 ± 3.1 ） months, significantly longer than that of the patients with mutations at the 5′ end [ （40.2 ± 2. 6 ） months, χ^2 = 7. 963, P = 0.005 ]. The mutation type was associated with renal survival time after surgery only （P=0.021）. The renal survival time of patients with in-frame mutation was （38.1 ±3.2） months, significantly shorter than those of the patients with truncating and missense mutations [ （49.5 ±4.0） months and （54.0 ±3.9） months respectively, P〈0.05]. Conclusion The position and type of PKD1 mutation are significantly associated with the prognosis of decortication surgery. The PKD1 mutation can be an indicator for the choice of the surgery in ADPKD patients.