Von Hippel-Lindau disease: An important differential diagnosis sf polycystic kidney disease

被引：11

作者：

Browne, G

Jefferson, JA

Wright, GD

Hughes, AE

Doherty, CC

Nevin, NC

Keogh, JAB

机构：

[1] MEATH HOSP,RENAL UNIT,DUBLIN 8,IRELAND

[2] BELFAST CITY HOSP,MARY MCGEOWN REG NEPHROL UNIT,BELFAST BT9 7AD,ANTRIM,NORTH IRELAND

[3] QUEENS UNIV BELFAST,DEPT MED GENET,BELFAST,ANTRIM,NORTH IRELAND

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 1997年 / 12卷 / 06期

关键词：

autosomal dominant polycystic kidney disease; vonHippel Lindau disease; genetic linkage analysis; visceral complications; genetic characteristics;

D O I：

10.1093/ndt/12.6.1132

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

Van Hippel Lindau disease is a dominantly inherited familial cancer syndrome, characterized by retinal, spinal, and cerebellar haemangioblastomas, renal cell carcinomas, and phaeochromocytomas. Cysts of the kidney and pancreas may also occur. We describe a large three-generation Irish family with VHL disease who initially presented with features typical of autosomal dominant polycystic kidney disease. Eight clinically affected individuals were found. Visceral complications were particularly prominent within the family. There were no erases of retinal angiomata or phaeochromocytoma. The diagnosis was confirmed by genetic linkage analysis in this family, although the exact mutation has yet to be defined.

引用

页码：1132 / 1136

页数：5

共 19 条

[1] Renal involvement in von Hippel-Lindau disease [J].