Monogenic renal diseases:: A clinical introduction

被引:0
|
作者
Grünfeld, JP [1 ]
机构
[1] Univ Paris 05, Serv Nephrol, Hop Necker, F-75743 Paris 15, France
关键词
renal genetics; polycystic kidney disease; Bardet-Biedl syndrome; cystinosis;
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
The clinical spectrum of monogenic renal diseases is wide ranging, from autosomal dominant polycystic kidney disease to very rare inherited disorders. The genes involved in most of these diseases have been identified. However some monogenic diseases are still not characterized clinically. The challenges of the future will be to understand phenotypic variability and the molecular mechanisms of disease, and to design pharmacological tools to stop or retard its progression. The post-gene era has begun and the field of research in monogenic disorders is wide open.
引用
收藏
页码:S43 / S46
页数:4
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