Kidney: polycystic kidney disease [PDF]
WIREs Developmental Biology, 2014 Polycystic kidney disease (PKD) is a life‐threatening genetic disorder characterized by the presence of fluid‐filled cysts primarily in the kidneys. PKD can be inherited as autosomal recessive (ARPKD) or autosomal dominant (ADPKD) traits. Mutations in either the PKD1 or PKD2 genes, which encode polycystin 1 and polycystin 2, are the underlying cause of
Gregory B. Vanden Heuvel +2 more
openaire +3 more sources
An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula [PDF]
, 2016 Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts.
Goldberg, Itzhak D. +3 more
core +9 more sources
Frontiers in Endocrinology, 2023 ObjectivePolycystic ovary syndrome is one of the most common endocrine disorders among women of childbearing age. The relationship between polycystic ovary syndrome and chronic kidney disease remains unclear and controversial.
Yufei Du +4 more
doaj +1 more source
American Society of Nephrology. Clinical Journal, 2020 Autosomal dominant polycystic kidney disease is characterized by progressive development and enlargement of kidney cysts, leading to ESKD. Because the kidneys are under high metabolic demand, it is not surprising that mounting evidence suggests that a ...
Kristen L. Nowak, K. Hopp
semanticscholar +1 more source
Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]
, 2018 Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of kidney cysts leading to kidney failure in adulthood. Inhibition of mammalian target of rapamycin (mTOR) slows polycystic kidney disease (PKD) progression in ...
Arcaro, Alexandre +10 more
core +2 more sources
Polycystic kidney disease: The complete structure of the PKD1 gene and its protein [PDF]
, 1995 Mutations in the PKD1 gene are the most common cause of autosomal dominant polycystic kidney disease (ADPKD). Other PKD1-like loci on chromosome 16 are approximately 97% identical to PKD1. To determine the authentic PKD1 sequence, we obtained the genomic
The International Polycystic Kidney Disease Consortium,
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Functional Analysis of a De Novo Monoallelic NEK8 Variant Supports Pathogenicity for a Polycystic Kidney Disease Phenotype [PDF]
Kidney International ReportsWhitney S. Thompson +9 more
doaj +1 more source
Tolvaptan in patients with autosomal dominant polycystic kidney disease.
New England Journal of Medicine, 2012 BACKGROUND The course of autosomal dominant polycystic kidney disease (ADPKD) is often associated with pain, hypertension, and kidney failure. Preclinical studies indicated that vasopressin V(2)-receptor antagonists inhibit cyst growth and slow the ...
V. Torres +9 more
semanticscholar +1 more source
Putative roles of cilia in polycystic kidney disease [PDF]
, 2011 The last 10years has witnessed an explosion in research into roles of cilia in cystic renal disease. Cilia are membrane-enclosed finger-like projections from the cell, usually on the apical surface or facing into a lumen, duct or airway.
Jenkins, Dagan, Winyard, Paul
core +1 more source
Management of Pain in Autosomal Dominant Polycystic Kidney Disease and Anatomy of Renal Innervation [PDF]
, 2015 Purpose Chronic pain is a prominent feature of autosomal dominant polycystic kidney disease that is difficult to treat and manage, often resulting in a decrease in quality of life.
Bacallao, Robert L. +4 more
core +1 more source