… reports of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN),
limiting characterization. To further study this, we formed an international cohort …

… The clinical manifestations of diseases caused by mutations in UMOD, MUC1 and REN … in
the range of 5–31%, depending on the study cohort 28 . In contrast to HNF1A gene anomalies, …

… large international cohort studies led … caused by a gain-of-function effect of pathogenic
variants. How the abnormal MUC1-fs protein causes progressive tubulointerstitial renal damage is …

… Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the
genes encoding uromodulin (… and risk for CKD and hypertension in several cohorts worldwide. …

… It is currently difficult to estimate their overall prevalence due to still limited clinical …
Detailed characterization of an international cohort of 111 individuals from 30 ADTKD-REN …

… Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized
cause of end-stage kidney disease, primarily due to … international retrospective cohort study …

… in our cohort, though they have not all been validated, often due to small family size. …
Based on an international retrospective cohort study of 111 individuals from 30 families with …

… are underrecognised and underreported due to their lack of distinctive clinical or diagnostic
histological … Table 1 Prevalence rates for genetic kidney diseases (GKD) in CKD cohort …

… (ADTKD) is caused by mutations in one of at least … study published to date has yielded
diagnostic mutations in almost 10% in unbiased cohorts of patients with chronic kidney disease (…

… (ADTKD) is a rare underdiagnosed cause of end-stage renal disease (ESRD). ADTKD is
caused by … In our cohort of nonfamilial cases with primary tubulointerstitial nephropathy (23 …