Defronzo R A, Thier S O
Perspect Nephrol Hypertens. 1976;4:65-81.
The functions of a kidney, whether normal or cystic, can be conceptualized in terms of anatomy (glomerulus, proximal tubule, loop of Henle, distal convolution, and collecting duct), activity (volume regulation, dilution and concentration, acid-base regulation, potassium excretion, transport of organic molecules, and calcium and phosphate excretion), and the integration of anatomic organization to meet functional demand. Our discussion of renal cystic disorders follows this conceptual outline. For discussions of normal renal physiology, the reader is referred to any one of several recent, excellent reviews (1-3). Systematic evaluation of renal function in cystic diseases of the kidney (medullary sponge kidney, medullary cystic disease, and polycystic kidney disease) has only rarely been performed. The available information suggests that the earliest detectable lesions consist primarily of tubular dysfunction. With time, however, significant reduction of glomerular filtration occurs and the resultant accumulation of uremic toxins dominates the clinical picture in polycystic and medullary cystic disease. Significant changes in glomerular function are unusual in medullary sponge kidney. This review represents an attempt to summarize the large body of literature that has accumulated on functional abnormalities in these disorders, and to point out those areas where further investigations are needed.
肾脏的功能，无论是正常的还是囊性的，都可以从解剖结构（肾小球、近端小管、亨氏袢、远端曲管和集合管）、活动（容量调节、稀释和浓缩、酸碱调节、钾排泄、有机分子转运以及钙和磷排泄）以及解剖结构的整合以满足功能需求的角度来理解。我们对肾囊性疾病的讨论遵循这一概念框架。关于正常肾脏生理学的讨论，读者可参考最近的几篇优秀综述中的任何一篇（1 - 3）。对肾脏囊性疾病（髓质海绵肾、髓质囊性疾病和多囊肾病）的肾功能进行系统评估的情况很少见。现有信息表明，最早可检测到的病变主要由肾小管功能障碍组成。然而，随着时间的推移，肾小球滤过会显著降低，在多囊肾病和髓质囊性疾病中，由此导致的尿毒症毒素积累主导了临床症状。在髓质海绵肾中，肾小球功能的显著变化并不常见。本综述旨在总结关于这些疾病功能异常方面积累的大量文献，并指出那些需要进一步研究的领域。
