Autosomal dominant tubulointerstitial kidney disease

O Devuyst, E Olinger, S Weber, KU Eckardt… - Nature Reviews …, 2019 - nature.com
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …

[HTML][HTML] Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—a KDIGO consensus report

KU Eckardt, SL Alper, C Antignac, AJ Bleyer… - Kidney international, 2015 - Elsevier
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the
genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN) …

Autosomal dominant tubulointerstitial kidney disease

AJ Bleyer, K Kidd, M Živná, S Kmoch - Advances in chronic kidney disease, 2017 - Elsevier
There are 3 major forms of autosomal dominant tubulointerstitial kidney disease (ADTKD):
ADTKD due to UMOD mutations, MUC1 mutations, and mutations in the REN gene …

Autosomal dominant tubulointerstitial kidney disease: clinical presentation of patients with ADTKD-UMOD and ADTKD-MUC1

N Ayasreh, G Bullich, R Miquel, M Furlano… - American Journal of …, 2018 - Elsevier
Rationale & Objective Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a
rare underdiagnosed cause of end-stage renal disease (ESRD). ADTKD is caused by …

Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia

NA Bolar, C Golzio, M Živná, G Hayot… - The American Journal of …, 2016 - cell.com
Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of
disorders characterized by renal tubular and interstitial abnormalities, leading to slow …

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

E Olinger, P Hofmann, K Kidd, I Dufour, H Belge… - Kidney international, 2020 - Elsevier
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized
cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The …

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

C Gast, A Marinaki, M Arenas-Hernandez, S Campbell… - BMC nephrology, 2018 - Springer
Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by
mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains …

[HTML][HTML] Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

AB Ekici, T Hackenbeck, V Moriniere, A Pannes… - Kidney international, 2014 - Elsevier
For decades, ill-defined autosomal dominant renal diseases have been reported, which
originate from tubular cells and lead to tubular atrophy and interstitial fibrosis. These …

Noninvasive immunohistochemical diagnosis and novel MUC1 mutations causing autosomal dominant tubulointerstitial kidney disease

M Živná, K Kidd, A Přistoupilová… - Journal of the …, 2018 - journals.lww.com
Background Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene
(MUC1) mutations (ADTKD-MUC1) is characterized by progressive kidney failure. Genetic …

Progression of tubulointerstitial fibrosis and the chronic kidney disease phenotype–role of risk factors and epigenetics

TD Hewitson, SG Holt, ER Smith - Frontiers in pharmacology, 2017 - frontiersin.org
Although the kidney has capacity to repair after mild injury, ongoing or severe damage
results in scarring (fibrosis) and an associated progressive loss of kidney function. However …