Bisceglia Michele, Galliani Carlos A, Senger Christof, Stallone Carmine, Sessa Adalberto
Division of Anatomic Pathology, IRCCS Casa Sollievo della Sofferenza Hospital, I-71013 San Giovanni Rotondo (FG), Italy.
Adv Anat Pathol. 2006 Jan;13(1):26-56. doi: 10.1097/01.pap.0000201831.77472.d3.
This review aims to assist in the categorization of inherited, developmental, and acquired cystic disease of the kidney as well as to provide a pertinent, up-to-date bibliography. The conditions included are autosomal-dominant polycystic kidney disease, autosomal-recessive polycystic kidney disease, unilateral renal cystic disease (localized cystic disease), renal simple cysts, multicystic dysplastic kidney, pluricystic kidney of the multiple malformation syndromes, juvenile nephronophthisis and medullary cystic disease, medullary sponge kidney, primary glomerulocystic kidney disease, and glomerulocystic kidney associated with several systemic disorders mainly of genetic or chromosomal etiology, cystic kidney in tuberous sclerosis, and in von Hippel-Lindau syndrome, cystic nephroma, cystic variant of congenital mesoblastic nephroma, mixed epithelial stromal tumor of the kidney, renal lymphangioma, pyelocalyceal cyst, peripylic cyst and perinephric pseudocyst, acquired renal cystic disease of long-term dialysis, and cystic renal cell carcinoma and sarcoma. Whereas the gross and histologic appearance of some of these conditions may be diagnostic, clinical and sometimes molecular studies may be necessary to define other types.
本综述旨在帮助对遗传性、发育性和获得性肾囊性疾病进行分类，并提供相关的最新参考文献。所涵盖的病症包括常染色体显性多囊肾病、常染色体隐性多囊肾病、单侧肾囊性疾病（局限性囊性疾病）、肾单纯性囊肿、多囊性发育不良肾、多种畸形综合征的多房性肾、青少年肾单位肾痨和髓质囊性疾病、髓质海绵肾、原发性肾小球囊性肾病、与几种主要由遗传或染色体病因引起的全身性疾病相关的肾小球囊性肾病、结节性硬化症中的囊性肾、冯·希佩尔-林道综合征中的囊性肾、囊性肾瘤、先天性中胚层肾瘤的囊性变体、肾混合性上皮间质瘤、肾淋巴管瘤、肾盂肾盏囊肿、肾盂周围囊肿和肾周假性囊肿、长期透析所致的获得性肾囊性疾病，以及囊性肾细胞癌和肉瘤。虽然其中一些病症的大体和组织学表现可能具有诊断价值，但对于其他类型的病症，可能需要进行临床研究，有时还需要分子研究来明确诊断。
