ISSN: 2578-5001
Authors: Sonam Raj, Rana Gopal Singh and Parimal Das*
Polycystic kidney disease (PKD) is a systemic disorder which adds majority of renal patients to end stage renal disease (ESRD). Among all type of PKD, autosomal dominant polycystic kidney disease (ADPKD) is most prevalent and fourth most leading cause of dialysis and kidney transplant. Polycystic kidneys in several genetic and non-genetic disorders suggest the role of multiple factors in cystogenesis. Linkage analysis revealed some closely linked loci two of which are identified as PKD1, PKD2 and an unidentified locus to ADPKD. Candidate gene products are central molecules of proteinprotein complex located at primary cilia and adhesion junctions of cell. In present study, Adult age group 31-59 years patients were more in number and relatively enlarged kidney size was observed in 49 PKD cases. Almost equal incidence of PKD in females to males (48.8%:51.2%) was observed in Indian population. 30.95% of the total cases enrolled cases had positive family history. Two associated symptoms like hypertension and presence of liver cysts and hepatomegaly were found more in frequency 19% and 39% in polycystic patients. Expressivity and variability in symptoms of ADPKD at individual level imply the role of genetic heterogeneity, effect of modifier genes and environmental factors.
Keywords:
Polycystic Kidney Disease; End Stage Renal Disease; Autosomal Dominant Polycystic Kidney Disease;
PKD1; PKD2; Polycystin
