Genetic contribution and associated pathophysiology in end-stage renal disease

Abstract

End-stage renal disease (ESRD) or chronic kidney disease (CKD) is the terminal state of the kidney when its function has been permanently and irreversibly damaged. A wide variety of etiologies and pathological processes culminate in ESRD, and both environmental and genetic factors contribute to its development and progression. Various reports suggest that susceptibility to develop ESRD has a significant genetic component. These studies include familial aggregation studies, comparisons of incidence rates between different racial or ethnic populations, and segregation analysis. Genetic approaches have been used to identify genes that contribute to genetic susceptibility. Many studies have now been carried out assessing the contribution of specific "candidate genes", which correlate with different functions that are involved in the renal pathogenesis. Independent studies for specific associated genes have frequently provided contradictory results. This may be due, in part, to the modest contribution to genetic susceptibility which these genes impart. With the availability of different genomewide association studies, chromosomal regions harboring novel, previously unrecognized, genes that may contribute to renal diseases have been recently reported. We have focused on different genetic studies conducted on ESRD and have discussed the strength and weaknesses of these studies. The nonmuscle myosin heavy chain 9 gene (MYH9) and renin-angiotensin system (RAS) have been discussed in detail.

High Intensity Interval Training Favourably Affects Angiotensinogen mRNA Expression and Markers of Cardiorenal Health in a Rat Model of Early-Stage Chronic Kidney Disease

“…Conversely, angiotensinogen infusion in mice [ 38 ] and Agt overexpression in rats [ 39 ] result in increased blood pressure. Evidence suggests that angiotensinogen is a more potent influencer of blood pressure than previously suspected [ 35 , 39 ], often more influential than other components of RAAS [ 40 ], and deserves more attention as a potential target in hypertension-related therapies [ 35 ], proposals that are supported by our findings.…”

ACE DD genotype associated with the female Chronic Kidney Disease patients of Tamilnadu population

“…The CKD is a polyphonic and complex disorder which results from gene-gene and gene-environmental interactions. The disease pathogenesis of renal failure is well correlated with genetic variability [1]; these findings highlight the importance of renal disease and its complications. Hypertension and CKD are closely associated diseases [2] which show several clinical complications like elevated blood pressure, poor renal outcome via pressure natriuresis mechanism [3,4].…”

Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly

“…Flow cytometry can effectively evaluate platelet function, 13 16 This demonstrates the importance of NMMHC-II in glomerular filtration. 17,18 NMMHC-IIB or C has a function similar to that of NMMHC-IIA in the kidney, eye, and ear and, therefore, can substitute for abnormal NMMHC-IIA. Cataracts or hearing disabilities often appear later than thrombocytosis or macrothrombocytosis because of the substitutional function of NMMHC-IIB or C. Our patient was screened for cataracts or hearing disability, but glomerulonephritis was the only sign at diagnosis.…”