Genetic Counseling of Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. ADPKD has a prevalence of 1: 1000. In additions, this disease accounts for 8~10 percent of the cases of end-stage renal disease. ADPKD is generally a late onset disorder characterized by progressive cyst development and bilaterally enlarged polycystic kidneys. The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. The 85% of individuals, ADPKD are caused by mutations in the gene PKD1.PKD1 gene is located on the short arm of chromosome 16 (16p13.3), the resting 15% patients are found mutations in PKD2 gene that is located on the long arm of chromosome 4 (4q21). This study on the genetic counseling of ADPKD based on retrospective chart review of30 ADPKD families with their heredity models and their clinical appearance. We found 87 definite cases with ADPKD. 18 of these ADPKD cases had already received hemodialysis including 9 % male and 10% female. The age of initial diagnosis was between 26-30 years old. The age of receiving initial hemodialysis was between 46-55 years old. By the genetic counseling our patients not only recognized the hereditary pattern of the in the early stage but also enjoy good quality of life from the delayed progression of renal function.