Schneider M C
Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Mol Med Today. 1996 Feb;2(2):70-5. doi: 10.1016/1357-4310(96)88741-7.
Until recently, the nature of the molecules involved in inherited cystic disease of the kidney remained unknown. These diseases are characterized by the development of multiple abnormal fluid-filled sacs or dilations in the kidney parenchyma, often leading to significant renal failure. The recent characterization of the PKD1 gene product and of other genes involved in murine polycystic models underscores the complexity of the pathways that lead to renal cystic disease.
直到最近,遗传性肾囊性疾病所涉及的分子的性质仍不清楚。这些疾病的特征是肾实质中出现多个异常的充满液体的囊或扩张,常常导致严重的肾衰竭。PKD1基因产物以及参与小鼠多囊模型的其他基因的最新特征强调了导致肾囊性疾病的途径的复杂性。