Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology
M Sutter, GG Germino - Journal of Laboratory and Clinical Medicine, 2003 - Elsevier
In autosomal dominant polycystic kidney disease (ADPKD), the precise steps leading to cyst
formation and loss of renal function remain uncertain. Pathophysiologic studies have
suggested that renal tubule epithelial cells form cysts as a consequence of increased
proliferation, dedifferentiation, and transition to a secretory pattern of transepithelial-fluid
transport. Since the cloning of two genes implicated in ADPKD, there has been an explosion
of information about the functions of the gene products polycystin 1 and 2. In this review, we …
formation and loss of renal function remain uncertain. Pathophysiologic studies have
suggested that renal tubule epithelial cells form cysts as a consequence of increased
proliferation, dedifferentiation, and transition to a secretory pattern of transepithelial-fluid
transport. Since the cloning of two genes implicated in ADPKD, there has been an explosion
of information about the functions of the gene products polycystin 1 and 2. In this review, we …