Glomerulocystic kidney disease

被引：40

作者：

Bissler, John J. ^{[1
]}

Siroky, Brian J. ^{[1
]}

Yin, Hong ^{[2
]}

机构：

[1] Cincinnati Childrens Hosp, Med Ctr, Div Nephrol & Hypertens, Cincinnati, OH 45229 USA

[2] Cincinnati Childrens Hosp, Med Ctr, Div Pathol, Cincinnati, OH 45229 USA

来源：

PEDIATRIC NEPHROLOGY | 2010年 / 25卷 / 10期

关键词：

Basal body; Cilia; Glomerulocystic kidney disease; Polycystic kidney disease; Tuberous sclerosis complex; TUBEROUS SCLEROSIS COMPLEX; DIGITAL SYNDROME TYPE-1; CYST FORMATION; PRIMARY CILIA; GENE; MUTATIONS; MICE; POLYCYSTIN-1; ENCODES; PKD1;

D O I：

10.1007/s00467-009-1416-2

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

Glomerulocystic disease is a rare renal cystic disease with a long descriptive history. Findings from recent studies have significantly advanced the pathophysiological understanding of the disease processes leading to this peculiar phenotype. Many genetic syndromes associated with glomerulocystic disease have had their respective proteins localized to primary cilia or centrosomes. Transcriptional control of renal developmental pathways is dysregulated in obstructive diseases that also lead to glomerulocystic disease, emphasizing the importance of transcriptional choreography between renal development and renal cystic disease.

引用

页码：2049 / 2059

页数：11

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