关键词： Bardet–Biedl syndrome Meckel–Gruber syndrome Zellweger syndrome autosomal dominant polycystic kidney disease autosomal dominant tubulointerstitial kidney disease autosomal recessive polycystic kidney disease calyceal diverticula cystic diseases cystic dysplasia interstitial diseases kidney multicystic dysplastic kidney disease nephronophthisis renal

Mesh ： Humans Adult Polycystic Kidney Diseases Kidney Genes, Regulator Transcription Factors Inheritance Patterns

来  源：   DOI：10.3390/genes15010091   PDF(Pubmed)

Abstract：
Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well known that common RCDs such as autosomal polycystic kidney disease and autosomal recessive kidney disease are linked to genes such as PKD1 and PKHD1, respectively. However, it is important to investigate the genetic pathophysiology of how these gene mutations lead to clinical symptoms and include some of the less-studied RCDs, such as autosomal dominant tubulointerstitial kidney disease, multicystic dysplastic kidney, Zellweger syndrome, calyceal diverticula, and more. We plan to take a thorough look into the genetic involvement and clinical sequalae of a number of RCDs with the goal of helping to guide diagnosis, counseling, and treatment.
摘要：
肾囊性疾病（RCDs）可以从子宫到成年早期出现，并表现出各种症状，包括肾脏，肝，和心血管表现。众所周知，常染色体多囊肾病和常染色体隐性肾病等常见RCD分别与PKD1和PKHD1等基因相关。然而,重要的是研究这些基因突变如何导致临床症状的遗传病理生理学，包括一些研究较少的RCD，如常染色体显性肾小管间质性肾病，多囊性发育不良肾,Zellweger综合征,calycal憩室，还有更多.我们计划深入研究一些RCD的遗传参与和临床后遗症，目的是帮助指导诊断，咨询,和治疗。
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