Autosomal dominant polycystic kidney disease

E Cornec-Le Gall, A Alam, RD Perrone - The Lancet, 2019 - thelancet.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
kidney disease and one of the most common causes of end-stage kidney disease. Multiple …

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 …

Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease

E Cornec-Le Gall, RJ Olson, W Besse… - The American Journal of …, 2018 - cell.com
Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive
development of kidney cysts, often resulting in end-stage renal disease (ESRD). This …

Prevalence estimates of polycystic kidney and liver disease by population sequencing

MB Lanktree, A Haghighi, E Guiard… - Journal of the …, 2018 - journals.lww.com
Background Estimating the prevalence of autosomal dominant polycystic kidney disease
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …

[HTML][HTML] Mechanism and application of metformin in kidney diseases: An update

A Song, C Zhang, X Meng - Biomedicine & Pharmacotherapy, 2021 - Elsevier
Metformin is an oral antihyperglycemic drug widely used to treat type 2 diabetes mellitus
(T2DM), acting via indirect activation of 5′ Adenosine monophosphate-activated Protein …

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 …

Insights into autosomal dominant polycystic kidney disease from genetic studies

MB Lanktree, A Haghighi, I di Bari… - Clinical journal of the …, 2021 - journals.lww.com
Autosomal dominant polycystic kidney disease is the most common monogenic cause of
ESKD. Genetic studies from patients and animal models have informed disease …

Genomic medicine for kidney disease

EE Groopman, HM Rasouly, AG Gharavi - Nature Reviews Nephrology, 2018 - nature.com
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

The importance of total kidney volume in evaluating progression of polycystic kidney disease

JJ Grantham, VE Torres - Nature Reviews Nephrology, 2016 - nature.com
The rate at which autosomal dominant polycystic kidney disease (ADPKD) progresses to
end-stage renal disease varies widely and is determined by genetic and non-genetic factors …

Pathogenic variants in the genes affected in Alport syndrome (COL4A3–COL4A5) and their association with other kidney conditions: a review

J Savige, P Harraka - American Journal of Kidney Diseases, 2021 - Elsevier
Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport
syndrome (COL4A3–COL4A5) in as many as 30% of individuals with focal and segmental …