Autosomal dominant polycystic kidney disease, characterized by numerous cysts in both kidneys, is the most frequent, potentially lethal monogenic disorder. Its prevalence is evaluated between 1/400 and 1/1000 live births and it accounts for 7 to 8 % of end-stage renal disease in developed countries. As yet, the pathogenesis of this disease is not fully understood and there is no specific treatment available. Nevertheless, in the last few years, fundamental and clinical research has been highly efficient in these fields. The purpose of this review is to update the practical implications of this research in terms of clinical manifestations, diagnosis and treatment.