Torra Roser
Enfermedades Renales Hereditarias, Fundación Puigvert, Institut d'Investigació Biomèdica Sant Pau, Universidad Autónoma de Barcelona, Barcelona, España.
Med Clin (Barc). 2014 Jan 21;142(2):73-9. doi: 10.1016/j.medcli.2013.09.018. Epub 2013 Nov 15.
Autosomal dominant polycystic kidney disease is the most frequent hereditary kidney disease. However it lacks a specific treatment. Its prevalence is 1/800 and causes the need for renal replacement therapy in 8-10% of patients on dialysis or kidney transplant. It is caused by mutations in the PKD1 and PKD2 genes, which cause a series of alterations in the polycystic cells, which have become therapeutic targets. There are many molecules that are being tested to counteract the alterations of these therapeutic targets. There are studies in all phases of research, from phase i to phase iv. Some of the molecules being tested are tolvaptan, mTOR inhibitors and, among many other, somatostatin analogues. These drugs are extensively reviewed in this article. Based on the accumulated experience the primary objective of the trials is the slowing of the increase in renal volume. Yet other renal end points such as renal function and hypertension are necessary. It is expected that in the coming years we can have specific, well tolerated, effective and affordable drugs for the treatment of autosomal dominant polycystic kidney disease.
常染色体显性多囊肾病是最常见的遗传性肾病。然而,它缺乏特效治疗方法。其患病率为1/800,8-10%的透析或肾移植患者需要肾脏替代治疗。它由PKD1和PKD2基因突变引起,这些突变导致多囊细胞发生一系列改变,这些细胞已成为治疗靶点。有许多分子正在接受测试,以对抗这些治疗靶点的改变。从I期到IV期,各个研究阶段都有相关研究。正在测试的一些分子包括托伐普坦、mTOR抑制剂以及许多其他药物,如生长抑素类似物。本文对这些药物进行了广泛综述。基于积累的经验,试验的主要目标是减缓肾脏体积的增加。然而,其他肾脏终点指标如肾功能和高血压也很有必要。预计在未来几年,我们能够拥有用于治疗常染色体显性多囊肾病的特效、耐受性良好、有效且价格合理的药物。