Polycystic Kidney Disease

[摘要] Polycystic kidney disease (PKD) is the most common genetic cause of kidney failure in adults and children. PKD is characterized by progressive cystic dilation of the renal tubules, which results in nephromegaly and often culminates in end-stage renal disease. PKD can be inherited as either an autosomal dominant trait (ADPKD) or autosomal recessive trait (ARPKD). Since our last review on this subject in 2002 (1), there have been tremendous advances in the understanding of the genetics and pathogenesis of PKD. The localization of the PKD proteins polycystin-1, polycystin-2, and fibrocystin in the primary cilium has renewed attention on this neglected organelle and rejuvenated an entire field of cell biology. The elucidation of the signaling pathways that are disrupted in cyst epithelial cells has provided new targets for therapeutic intervention. The generation of orthologous animal models, especially knockout mice, has enabled preclinical evaluation of drugs that target these pathways and accelerated their use in clinical studies of patients with PKD. Concomitant with the discoveries in basic science research, there have also been major advances on the clinical research front. The National Institute of Diabetes, Digestive, and Kidney Diseases (NIDDK) has sponsored several major clinical studies on PKD. One recently completed study, the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) study, has provided new insights into disease progression and measurement.

[学科分类] 泌尿医学

[关键词] Bone marrow necrosis;Sickle cell disease;Hyperhemolysis syndrome