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Minerva Medica 2017 February;108(1):43-56

DOI: 10.23736/S0026-4806.16.04830-8

Copyright © 2016 EDIZIONI MINERVA MEDICA

lingua: Inglese

Predictors of rapid disease progression in autosomal dominant polycystic kidney disease

Valentina CORRADI 1, 2, Fiorella GASTALDON 1, Carlotta CAPRARA 2, Anna GIULIANI 1, Francesca MARTINO 1, Fiorenza FERRARI 2, Claudio RONCO 1, 2

1 Department of Nephrology, Dialysis and Transplantation, San Bortolo Hospital, Vicenza, Italy; 2 International Renal Research Institute (IRRIV), San Bortolo Hospital, Vicenza, Italy


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Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic diseases with a reported prevalence of 1:400 to 1:1000. Since the intact kidneys can compensate for the loss of glomerular filtration in ADPKD patients, renal insufficiency usually remains undetected until almost the fourth decade of life. Hereafter, reliable diagnostic and prognostic biomarkers to identify ADPKD progression are urgently needed. Several studies and systematic reviews tried to identify markers or predictors of rapid disease progression of ADPKD. The aim of this study is to review predictors of rapid disease progression of ADPKD that can be useful to the clinician. We will describe several factors associated with rapid progression of ADPKD derived from retrospective or cross-sectional studies, suggesting the best and most useful predictors that may help to patients management in clinical practice. We will attempt to identify the most useful predictors of rapid disease progression of ADPKD: established TKV growth rate >5% per year, annual estimated glomerular filtration rate decline >5 mL/min/1.73 m2, truncating PKD1 mutations and elevated plasma copeptin level. The combination of several factors that can predict the rapid ADPKD progression is more accurate than a single-marker strategy. The “PRO-PKD” risk scoring system combined with TKV, can be useful in order to evaluate the ADPKD patients and they appear to be appropriate predictors of progression disease. Moreover levels of copeptin and some urinary markers can be matched to these factors for improved patient assessment in rapid progression.


KEY WORDS: Polycystic kidney, autosomal dominant - Disease progression - Biomarkers - Prognosis

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