Pathogenesis and New Treatment of Autosomal Dominant Polycystic Kidney Disease

Korean Journal of Nephrology 2011;30(3):231-238.

Soo Wan Kim, M.D.

Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea

종설 : 상염색체우성 다낭신: 병인론과 치료의 최신지견

김수완

전남대학교 의과대학 내과학교실

Abstract

The discovery of the genes and their respective proteins that are associated with autosomal dominant polycystic kidney disease (ADPKD) has revolutionized the field of ADPKD biology. Recent studies indicate that the pathogenesis of ADPKD is linked to abnormalities in the primary cilium in the kidney. Inactivation of ciliary proteins in the postnatal kidney has uncovered novel roles of primary cilia in regulating tubular growth and repair after injury. Furthermore, defective tubular repair after injury may contribute to the progression of ADPKD. Studies of signaling pathways that are perturbed in ADPKD have identified potential targets for pharmacological therapy. Better understanding of the downstream consequences of ADPKD mutations has identified a number of therapeutic targets that are now being tested in preclinical and clinical trials. The author summarized recent insights in the pathogenesis of ADPKD including the genetics of ADPKD, the properties of the respective polycystin proteins, the role of cilia, some cell-signaling pathways and new therapeutic interventions.

Key Words: Polycystic kidney disease, Cilia, Vasopressins