一名成人的结节性硬化症2型/多囊肾病1型连续基因综合征

TSC2/PKD1 contiguous gene syndrome in an adult.

作者信息

Culty T, Molinie V, Lebret T, Savareux L, Souid M, Delahousse M, Botto H

机构信息

Department of Urology, CHU Pitié-Salpétrière, Paris, France.

出版信息

Minerva Urol Nefrol. 2006 Dec;58(4):351-4.

PMID:17268401

Abstract

A 48-year-old woman with a history of autosomal-dominant polycystic kidney disease (ADPKD), was found to have multiple renal angiomyolipomas on a pathological examination after nephrectomy. The clinical and pathological presentation is consistent with the diagnosis of TSC2/PKD1 contiguous gene syndrome, caused by the simultaneous loss of TSC2 and PKD1, the two major genes for tuberous sclerosis complex and ADPKD.

摘要

一名48岁患有常染色体显性多囊肾病（ADPKD）的女性，在肾切除术后的病理检查中发现有多个肾血管平滑肌脂肪瘤。临床和病理表现符合TSC2/PKD1相邻基因综合征的诊断，该综合征由结节性硬化症复合体和ADPKD的两个主要基因TSC2和PKD1同时缺失引起。