The identification of genetic factors associated with the risk, onset, and progression of kidney
disease has the potential to provide mechanistic insights and therapeutic perspectives. In …

In genomic medicine, the concept of genetically transitional disease (GTD) refers to cases in
which gene mutation is necessary but not sufficient to cause disease. In this Perspective, we …

Urinary stone disease (USD) is a major health burden affecting over 10% of the United
Kingdom population. While stone disease is associated with lifestyle, genetic factors also …

Estimated glomerular filtration rate (eGFR) impacts the concentration of plasma biomarkers
confounding biomarker association studies of eGFR with reverse causation. To identify …

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 …

Missense mutations in the uromodulin (UMOD) gene cause autosomal dominant
tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney …

Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in
one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout …

Uromodulin, also known as Tamm-Horsfall protein, represents the predominant urinary
protein in healthy individuals. Over the years, studies have revealed compelling …

The interplay between genetic and environmental factors influences the course of chronic
kidney disease (CKD). In this context, genetic alterations in the kidney disease gene MUC1 …

The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD)
include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many …