Aspetti biomolecolari della malattia renale policistica (PKD)

C. Scolozzi

doi:10.33393/gcnd.2012.1182

Authors

C. Scolozzi Estratto della Tesi di Specializzazione in Biochimica e Chimica Clinica Università degli Studi di Pisa, Anno Accademico 1997/98

DOI:

https://doi.org/10.33393/gcnd.2012.1182

Keywords:

ADPKD, Cyst initiation, Tubular cell proliferation

Abstract

Autosomal dominant polycystic kidney disease (ADPKD)is the most common genetic kidney disease with an estimated prevalence of between 1:400 and 1:1,000. Caused by germline mutations in PKD1 (85%) or PKD2 (15%). The cardinal feature of ADPKD is the presence of multiple fluid-filled kidney cysts which enlarge over time. Cyst initiation and expansion is a complex process characterized by abnormalities in tubular cell proliferation, fluid secretion, extracellular matrix formation and cell polarity. Currently, the three major treatment strategies are to: 1) reduce cAMP levels; 2) inhibit cell proliferation, and 3) reduce fluid secretion.