虽然针对人类常染色体显性遗传性多囊肾病（ADPKD）分子机制和发病机理方面的研究已经取得相当大的进展，但目前为止在临床上仍然没有有效的治疗方法。本课题组不仅创建了一种能够模拟人类ADPKD疾病表型的Pkd2基因突变小鼠模型，还成功地建立了一种带有人类PKD2转基因小鼠模型。这种PKD2转基因鼠可挽救Pkd2基因敲除鼠的胚胎死亡和囊肿表型。这些前期大量的工作为我们实施ADPKD基因治疗奠定了理论基础。此外，本研究组新近成功地开展了小鼠肾盂逆行性注射的方法，因此我们可通过这一逆行注射的方法将功能性PKD2转基因传送到ADPKD小鼠模型的肾上皮细胞，以达到治疗该疾病的目的。我们的这一具有一定开创性的新治疗方案不仅将为ADPKD的提供了一个新的视角，而且使之有可能成为治疗ADPKD的一种有效的方法，并为人类遗传病的新疗法的研究提供极具价值的理论参考依据。

Autosomal dominant polycystic disease (ADPKD) is one of the most common life-threatening genetic diseases. Although considerable progression has been obtained in our understanding of the disease mechanism, there currently is no effective therapy for patients with this disease in clinical practice. We have recently established an ADPKD mouse model (Vil-Cre;Pkd2f3/f3) which mimics clinical manifestations of human ADPKD patients. In addition, we have also generated a transgenic mouse line (PKD2tg), in which expression of the human PKD2 full-length ORF cDNA is controlled by the CMV IE enhancer and the chicken β-actin promoter (pCAGGS expression vector). This transgenic mouse line rescues all disease phenotypes of the ADPKD mouse model (Vil-Cre;Pkd2f3/f3). This finding lay a fundamental base for applying PKD2 transgene to be a therapeutic reagent for treatment of ADPKD models and patients. We have then recently developed a gene delivery system by which the transgene can be transferred into the renal epithelia by hydrodynamic pelvis injection. Our preliminary data indicate this system can deliver a transgene into renal epithelia and remain its stably expressing. We therefore attempt to use the system to transfer functional PKD2 transgene into renal epithelia by this novel technology. The positive finding will certainly provide a new therapeutic approach toward curing this human genetic disease, for which there currently is no effective treatment in clinic.