V. Judia Harriet Sumathy*
Postgraduate & Research Department of Biotechnology, Women’s Christian College, Chennai–600006, India.
Polycystic kidney disease is a bilateral disorder that affects approximately 200,000-400,000 persons in the United States. The most common form of the disease is inherited as an Autosomal dominant trait (ADPKD). It typically causes renal insufficiency by the fifth or sixth decade of life. The disease is characterized by the progressive enlargement of a portion of renal tubule segments (proximal, distal, loop of Henle, collecting duct). Kidney disease may progress to end stage renal disease, a serious condition in which the kidneys fail to remove the wastes from the body and hence must be treated by dialysis or kidney transplant. According to the National Institute of Health, each year more than 50,000 Americans are diagnosed with end stage renal failure [ESRD] disease, and diabetes, which affects an estimated 16 million Americans, is the most common cause. This is a first attempt study in Indian scenario initiated to clinically analyse the Histological, Hematological, Biochemical, Genetic and Pharmacogenomic study of Human Polycystic Kidney. The present study was undertaken to compare the Western data with the Indian data regarding the Biochemical parameters and also the location, mutation and genetic alteration of PKD 1 gene and to trace for Novel mutations for PKD 1 gene. PCR and DNA sequencing was also carried out in PKD 1 gene to identify established and de novo mutations at significant mucleotide positions. Finally Statistical tools were incorporated to investigate the existence of significant amount of difference between normal and PKD subjects within the study variables and to identify the variables which significantly predicts the index variables such as Blood Urea and Serum Creatinine in the PKD subjects.
Keywords: Polycystic kidney disease, Hereditary character, Autosomal dominant, End Stage Renal Failure and National Institute of Health.