體染色體顯性多囊性腎臟病(Autosomal Dominant Polycystic Kidney Disease; ADPKD) 是最常見的腎臟遺傳性疾病，根據流行病學的研究，盛行率大約1/400 到1/1000。臨床上病人會出現腎臟囊泡擴大併發腎臟衰竭的情形，同時也可能合併高血壓、腎臟囊腫感染、出血、疼痛、腎結石、肝臟囊泡、顱內血管瘤等情形。多囊性腎臟病的診斷可藉由超音波、電腦斷
層或核磁共振等影像學檢查，配合家族史而獲得確切的診斷。現階段治療仍著重在血壓的控制，預防腎功能的惡化與相關併發症的治療。由於多囊性腎臟病致病的病理機轉在基礎研究已有部份成果，因此有許多發展運用來治療囊泡形成的藥物正在進行臨床試驗。目前第三期的臨床試驗如下：Sirolimus 與Everolimus 透過抑制mTOR進而減少細胞增生與囊泡的形成，在動物實驗治療效果佳但是臨床試驗治療效果不如預期。Somatostatin analogue 可透過結合受體減少cAMP 形成，進一步減少細胞增生與囊泡的形成，在總腎臟體積方面治療組相較於對照組有較低的增大情形，但兩組腎臟功能未有差異，因此Somatostatin analogue 有延緩腎臟囊泡生長的效果。另外Tolvaptan 可透過結合V2 receptor 進而抑制cAMP 形成而達到療效，目前正繼續進行第三期的臨床試驗。除此之外，目前仍有許多藥物在動物實驗有療效，未來或許將繼續進行人體的臨床試驗，相信多囊性腎臟病未來的治療成果是可以令人期待的。

Autosomal dominant polycystic kidney disease (ADPKD) is the most common of the inherited renal cystic disease. Estimated prevalence is between one in 400 and one in 1000. In ADPKD these manifestations include cysts in liver, chronic kidney disease, hypertension, renal cysts infection, bleeding, pain, renal stones, and intracranial aneurysm. The diagnosis of ADPKD in an individual with a positive family history relies on imaging testing; include sonography, CT, or MRI. Current treatment is directed towards controlling blood pressure, preventing renal function decline, reducing morbidity and mortality due to complications of the disease. The
pathogenesis of ADPKD is well-known on basic research, so several compounds shown to be effective in preclinical models have already undergone clinical trials. This article we provide a review the promising novel therapeutic agents in ADPKD. Inhibit progression of ADPKD and other renal cystic conditions may be available in the near future.