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肾小球囊状肾病。

Glomerulocystic kidney disease.

机构信息

Division of Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, MLC 7022, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.

出版信息

Pediatr Nephrol. 2010 Oct;25(10):2049-56; quiz 2056-9. doi: 10.1007/s00467-009-1416-2. Epub 2010 Jan 21.

Abstract

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.

摘要

肾小球囊性病是一种罕见的肾囊性疾病,具有很长的描述历史。最近的研究结果极大地促进了对导致这种特殊表型的疾病过程的病理生理学理解。许多与肾小球囊性病相关的遗传综合征已将其各自的蛋白定位到初级纤毛或中心体。在导致肾小球囊性病的阻塞性疾病中,肾脏发育途径的转录控制失调,强调了肾脏发育和肾脏囊性疾病之间转录协调的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db7c/2923715/bddd9d0025c6/467_2009_1416_Fig1_HTML.jpg

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本文引用的文献

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