The Pathophysiology of Inherited Renal Cystic Diseases

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.

Exploring Adiponectin in Autosomal Dominant Kidney Disease: Insight and Implications

“…Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common monogenic disorder with an increasing prevalence in the last decade [1,2]. The patients affected by ADPKD are characterized by progressive formation of cysts in the kidneys with progressive renal failure; in addition, more than half suffer from an increased predisposition to atherosclerosis, chronic inflammation, and show a higher risk of cardiovascular disease [3].…”