Back to Search Start Over

The Pathophysiology of Inherited Renal Cystic Diseases.

Authors :
Satariano, Matthew
Ghose, Shaarav
Raina, Rupesh
Source :
Genes. Jan2024, Vol. 15 Issue 1, p91. 21p.
Publication Year :
2024

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20734425
Volume :
15
Issue :
1
Database :
Academic Search Index
Journal :
Genes
Publication Type :
Academic Journal
Accession number :
175078364
Full Text :
https://doi.org/10.3390/genes15010091