English 
Italian Rene policistico: dall’ereditarietà complessa alla terapia
Policistic kidney disease: from genetic complexity to therapy
AUTORI
1International Renal Research Institute Vicenza (IRRIV), Ospedale di San Bortolo, Vicenza
2Unità Operativa di Nefrologia, Dialisi e Trapianti Renali, Ospedale di San Bortolo, Vicenza
3Dipartimento di Medicina (DIMED) Università di Padova
ABSTRACT
Policistic kidney disease: from genetic complexity to therapy
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a major genetic disorder affecting up to 12.5 million individuals worldwide and it is the fourth most common global cause for renal replacement therapy.
ADPKD is a chronic, progressive condition characterized by the development and growth of cysts in the kidneys and other organs and by additional systemic manifestations. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable intra and inter-family. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. Heritability of ADPKD is a complex matter due to different causes such as hypomorfic alleles, digenic heritance, mosaicism and modifier genes. The phenotypic variability of ADPKD can be explained at three genetic levels: genic, allelic and gene modifier effects. Recent advances in molecular screening for PKD gene mutations have generated considerable improvement regarding the knowledge of genetic basis of ADPKD. The purpose of this paper is to provide a comprehensive review of the genetics of ADPKD, focusing on new insights in genotype-phenotype correlation and explaining the tremendous hereditability complexity. Evaluation of these new genetic information requires a multidisciplinary approach involving nephrologists and genetists, taking care of patients (and their families) considering clinical and genetic aspects.