Genetic complexity of autosomal dominant polycystic kidney and liver diseases

E Cornec-Le Gall, VE Torres… - Journal of the American …, 2018 - journals.lww.com
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis,
between two groups of inherited disorders, autosomal dominant polycystic kidney diseases …

[HTML][HTML] Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies …

AB Chapman, O Devuyst, KU Eckardt, RT Gansevoort… - Kidney international, 2015 - Elsevier
Autosomal-dominant polycystic kidney disease (ADPKD) affects up to 12 million individuals
and is the fourth most common cause for renal replacement therapy worldwide. There have …

Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on …

RT Gansevoort, M Arici, T Benzing… - Nephrology Dialysis …, 2016 - academic.oup.com
Abstract Recently, the European Medicines Agency approved the use of the vasopressin V2
receptor antagonist tolvaptan to slow the progression of cyst development and renal …

Assessing risk of rapid progression in autosomal dominant polycystic kidney disease and special considerations for disease-modifying therapy

FT Chebib, VE Torres - American Journal of Kidney Diseases, 2021 - Elsevier
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited
cause of kidney failure, accounting for 5%-10% of cases. Predicting which patients with …

Predictors of autosomal dominant polycystic kidney disease progression

RW Schrier, G Brosnahan… - Journal of the …, 2014 - journals.lww.com
Autosomal dominant polycystic kidney disease is a genetic disorder associated with
substantial variability in its natural course within and between affected families …

Imaging-based diagnosis of autosomal dominant polycystic kidney disease

Y Pei, YH Hwang, J Conklin, JL Sundsbak… - Journal of the …, 2015 - journals.lww.com
The clinical use of conventional ultrasonography (US) in autosomal dominant polycystic
kidney disease (ADPKD) is currently limited by reduced diagnostic sensitivity, especially in …

Refining genotype-phenotype correlation in autosomal dominant polycystic kidney disease

YH Hwang, J Conklin, W Chan, NM Roslin… - Journal of the …, 2016 - journals.lww.com
Renal disease variability in autosomal dominant polycystic kidney disease (ADPKD) is
strongly influenced by the gene locus (PKD1 versus PKD2). Recent studies identified …

The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of …

A Solazzo, F Testa, S Giovanella, M Busutti, L Furci… - PLoS …, 2018 - journals.plos.org
Background and objectives ADPKD is erroneously perceived as a not rare condition, which
is mainly due to the repeated citation of a mistaken interpretation of old epidemiological …

Molecular diagnostics for autosomal dominant polycystic kidney disease

PC Harris, S Rossetti - Nature Reviews Nephrology, 2010 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is a common nephropathy caused
by mutations in either PKD1 or PKD2. Mutations in PKD1 account for∼ 85% of cases and …

New treatment paradigms for ADPKD: moving towards precision medicine

MB Lanktree, AB Chapman - Nature Reviews Nephrology, 2017 - nature.com
The natural history of autosomal dominant polycystic kidney disease (ADPKD) is
characterized by a variable rate of cyst development and increase in total kidney volume …