Department of Internal Medicine, Family Medical Center, Diyarbakir, Turkey.
Arch Iran Med. 2012 Jun;15(6):384-6.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomatous involvement of multiple organs such as the skin, central nervous system, kidneys, lungs, and heart. A linkage has been found with a locus on the long arm of chromosome 9 (9q34) and with a locus on the short arm of chromosome 16 (16p13). TSC has a birth incidence of 1/6000. Children with TSC are almost universally born with normal kidneys, but cystic disease and angiomyolipomas develop with increasing age. Angiomyolipomas, renal cysts, and renal cell carcinoma are classical features of renal involvement in TSC. Renal complications are the most common cause of death in adult TSC patients, thus renal involvement has a crucial importance on the course of this disease. We present a 27-year-old patient previously diagnosed as tuberous sclerosis complex and referred with acute renal failure and polycystic kidney disease.
结节性硬化症（TSC）是一种常染色体显性遗传疾病，其特征是多器官错构瘤性受累，如皮肤、中枢神经系统、肾脏、肺和心脏。已发现与染色体 9 长臂上的一个位点（9q34）和染色体 16 短臂上的一个位点（16p13）有关。TSC 的出生率为 1/6000。患有 TSC 的儿童几乎普遍出生时肾脏正常，但随着年龄的增长，囊性疾病和血管平滑肌脂肪瘤会发展。血管平滑肌脂肪瘤、肾囊肿和肾细胞癌是 TSC 肾脏受累的典型特征。肾脏并发症是成年 TSC 患者死亡的最常见原因，因此肾脏受累对该疾病的病程具有至关重要的意义。我们介绍了一位 27 岁的患者，此前被诊断为结节性硬化症，因急性肾衰竭和多囊肾病就诊。
