Regulation of the actin cytoskeleton in podocytes

J Blaine, J Dylewski - Cells, 2020 - mdpi.com
Podocytes are an integral part of the glomerular filtration barrier, a structure that prevents
filtration of large proteins and macromolecules into the urine. Podocyte function is …

Antifibrotic agents for the management of CKD: a review

M Ruiz-Ortega, S Lamas, A Ortiz - American Journal of Kidney Diseases, 2022 - Elsevier
Kidney fibrosis is a hallmark of chronic kidney disease (CKD) and a potential therapeutic
target. However, there are conceptual and practical challenges to directly targeting kidney …

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

A Domingo-Gallego, M Pybus, G Bullich… - Nephrology Dialysis …, 2022 - academic.oup.com
Background Inherited kidney diseases are one of the leading causes of chronic kidney
disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early …

A clinical workflow for cost-saving high-rate diagnosis of genetic kidney diseases

F Becherucci, S Landini, V Palazzo… - Journal of the …, 2023 - journals.lww.com
Background Whole-exome sequencing (WES) increases the diagnostic rate of genetic
kidney disorders, but accessibility, interpretation of results, and costs limit use in daily …

Review of genetic testing in kidney disease patients: diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney …

LR Claus, R Snoek, NVAM Knoers… - American Journal of …, 2022 - Wiley Online Library
Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …

Gitelman-like syndrome caused by pathogenic variants in mtDNA

D Viering, KP Schlingmann, M Hureaux… - Journal of the …, 2022 - journals.lww.com
Background Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy
characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is …

Genetics-first approach improves diagnostics of ESKD patients< 50 years old

R Snoek, RH van Jaarsveld, TQ Nguyen… - Nephrology Dialysis …, 2022 - academic.oup.com
Background Often only chronic kidney disease (CKD) patients with high likelihood of genetic
disease are offered genetic testing. Early genetic testing could obviate the need for kidney …

Aguascalientes: one of the hottest chronic kidney disease (CKD) hotspots in Mexico and a CKD of unknown aetiology mystery to be solved

P Villalvazo, S Carriazo, C Martin-Cleary… - Clinical Kidney …, 2021 - academic.oup.com
In a recent issue of Clinical Kidney Journal (CKJ), Gutierrez-Peña et al. reported a high
incidence and prevalence of advanced chronic kidney disease (CKD) in Aguascalientes …

Monogenic focal segmental glomerulosclerosis: a conceptual framework for identification and management of a heterogeneous disease

M Sambharia, P Rastogi… - American Journal of …, 2022 - Wiley Online Library
Focal segmental glomerulosclerosis (FSGS) is not a disease, rather a pattern of histological
injury occurring from a variety of causes. The exact pathogenesis has yet to be fully …

Beyond the kidney biopsy: genomic approach to undetermined kidney diseases

T Robert, L Raymond, M Dancer, J Torrents… - Clinical Kidney …, 2024 - academic.oup.com
Background According to data from large national registries, almost 20%–25% of patients
with end-stage kidney disease have an undetermined kidney disease (UKD). Recent data …