Choi K C, Kim S W, Kim N H, Kang Y J
Department of Internal Medicine, Chonnam University Medical School, Kwangju, Korea.
J Korean Med Sci. 1996 Dec;11(6):526-31. doi: 10.3346/jkms.1996.11.6.526.
Polycystic kidney disease is a relatively uncommon finding of tuberous sclerosis. Furthermore, the renal insufficiency by the severe polycystic kidney disease is extremely rare in tuberous sclerosis. The patient was a 27-year-old man, complaining of generalized seizure and progressive abdominal distension. His clinical features were chracterized by epilepsy, mental retardation, skin abnormalities including adenoma sebaceum, shagreen patch and ash-leaf spots. Abdominal computed tomography demonstrated numerous variable sized cysts throughout both kidneys. Clinical and laboratory findings revealed chronic renal failure due to severe polycystic kidneys. On reviewing the literature, the present case is the first report of polycystic kidneys associated with tuberous sclerosis in Korea.
多囊肾病是结节性硬化症相对不常见的表现。此外，严重多囊肾病导致的肾功能不全在结节性硬化症中极为罕见。该患者为一名27岁男性，主诉全身性癫痫发作和进行性腹胀。其临床特征为癫痫、智力发育迟缓、皮肤异常，包括皮脂腺瘤、鲨革斑和叶状白斑。腹部计算机断层扫描显示双肾布满大小不一的囊肿。临床和实验室检查结果显示，严重多囊肾导致慢性肾衰竭。查阅文献发现，本病例是韩国首例与结节性硬化症相关的多囊肾报告。
