Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a clinical entity defined by
interstitial fibrosis with tubular damage, bland urinalysis and progressive kidney disease …

Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of disorders
with a bland urinary sediment, slowly progressive chronic kidney disease (CKD), and …

The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein
excreted in normal urine. Rare large-effect variants in UMOD cause autosomal dominant …

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 …

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare inherited disorder
characterized by progressive loss of kidney function, nonsignificant urinalysis and …

Abstract Purpose of Review To provide a comprehensive update on the role of genetic
testing for the evaluation of kidney transplant recipient and living donor candidates. Recent …

Two dimensional GC (GC× GC)–time-of-flight mass spectrometry (TOFMS) has been used to
improve accurate metabolite identification in the chemical industry, but this method has not …

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

Background Monogenic disorders are estimated to account for 10%–12% of patients with
kidney failure. We report the unexpected finding of an unusual uromodulin (UMOD) variant …