Rene policistico autosomico dominante: dalla patogenesi alla terapia

Autosomal Dominant Polycystic Kidney (ADPKD) is the most common genetically determined kidney disease of Mendelian inheritance. It has a variable prevalence, depending on case series, from 1:1,000 to 1:2,500, and represents fourth cause renal failure in world. part so-called ciliopathies mainly caused by mutation two genes: PKD1, located chromosome 16p PKD2 gene, 4q coding for Polycystin-2 (PC2); although other disease-causing genes have recently been identified: DNAJB11 GANAB. These proteins consist, respectively, calcium channel transmembrane receptor, they play decisive role regulating cell proliferation, division differentiation, apoptosis autophagy. The molecular mechanisms underlying genesis cysts are multiple this reason not yet completely understood several them subject preclinical clinical studies aimed at evaluating efficacy therapies that could continue interfere specific way, date, only tolvaptan octreotide-LAR (the latter Italy) approved treatment secondaryto ADPKD. Here, we therefore recapitulate different pathogenetic pathways ADPKD possible therapeutic treatments.