Autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited human kidney disease, with a prevalence rate of about 1:1000. It accounts for 10% of end-stage renal disease (ESRD) in adults. ADPKD, although rarely of clinical significance before the fourth decade of life, may also be detected in childhood. The pattern of inheritance is autosomal dominant with a very high penetrance. In 90% of the cases the gene mutation is located on chromosome 16. Primary defects in tubular differentiation and epithelial cell growth are the principal pathogenic mechanisms for cyst formation in ADPKD. Hypertension and renal insufficiency are the most common clinical features of children with ADPKD. In addition, extrarenal manifestations of ADPKD, seen commonly in adults, are rare in the pediatric group. Careful documentation, close monitoring and genetic counseling constitute the basis of management of this progressive renal disease. Dialysis and transplantation are options for patients who develop end stage renal disease.