Genetics of chronic kidney disease

A Vivante - New England Journal of Medicine, 2024 - Mass Medical Soc
Key Points Genetics of Chronic Kidney Disease Genetic causes of chronic kidney disease
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …

The glomerular filtration barrier: a structural target for novel kidney therapies

IS Daehn, JS Duffield - Nature Reviews Drug Discovery, 2021 - nature.com
Loss of normal kidney function affects more than 10% of the population and contributes to
morbidity and mortality. Kidney diseases are currently treated with immunosuppressive …

KDIGO 2024 clinical practice guideline for the evaluation and management of chronic kidney disease

PE Stevens, SB Ahmed, JJ Carrero… - Kidney …, 2024 - kidney-international.org
This article is published as part of a supplement sponsored by Kidney Disease: Improving
Global Outcomes (KDIGO). The opinions or views expressed in this supplement are those of …

KDIGO 2021 clinical practice guideline for the management of glomerular diseases

BH Rovin, SG Adler, J Barratt, F Bridoux… - Kidney …, 2021 - kidney-international.org
Glomerular disease, be it primary or secondary, occurring in the setting of systemic
autoimmune diseases, infections, drugs, or malignancy, affects individuals of all ages. In …

Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease

H Liu, T Doke, D Guo, X Sheng, Z Ma, J Park, HMT Vy… - Nature …, 2022 - nature.com
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …

Genome-wide polygenic score to predict chronic kidney disease across ancestries

A Khan, MC Turchin, A Patki, V Srinivasasainagendra… - Nature medicine, 2022 - nature.com
Chronic kidney disease (CKD) is a common complex condition associated with high
morbidity and mortality. Polygenic prediction could enhance CKD screening and prevention; …

Mechanisms of cognitive dysfunction in CKD

D Viggiano, CA Wagner, G Martino… - Nature Reviews …, 2020 - nature.com
Cognitive impairment is an increasingly recognized major cause of chronic disability and is
commonly found in patients with chronic kidney disease (CKD). Knowledge of the …

Guidelines for genetic testing and management of Alport syndrome

J Savige, BS Lipska-Zietkiewicz, E Watson… - Clinical Journal of the …, 2022 - journals.lww.com
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the
cause of persistent hematuria, especially with a family history of hematuria or kidney function …

Discovery and prioritization of variants and genes for kidney function in> 1.2 million individuals

KJ Stanzick, Y Li, P Schlosser, M Gorski… - Nature …, 2021 - nature.com
Genes underneath signals from genome-wide association studies (GWAS) for kidney
function are promising targets for functional studies, but prioritizing variants and genes is …

Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome

J Gibson, R Fieldhouse, MMY Chan… - Journal of the …, 2021 - journals.lww.com
Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …