Autosomal Dominant Tubulointerstitial Kidney Disease: A Review

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F25%3A10505049" target="_blank" >RIV/00216208:11110/25:10505049 - isvavai.cz</a>

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=PlOzAwxzK9" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=PlOzAwxzK9</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1053/j.ajkd.2025.05.015" target="_blank" >10.1053/j.ajkd.2025.05.015</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Autosomal Dominant Tubulointerstitial Kidney Disease: A Review

Popis výsledku v původním jazyce

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized rare condition with 3 primary characteristics: autosomal dominant inheritance, bland urinary sediment (absence of hematuria and proteinuria), and chronic kidney disease (CKD) leading to kidney failure (need for kidney replacement therapy or kidney transplantation) between 20 and 80 years of age, with a mean age of kidney failure of approximately 45 years. Pathogenic variants in UMOD, MUC1, REN, and APOA4 have been identified as causative in ADTKD families. Prior to 2000, ADTKD was only diagnosed clinically and had been described in fewer than 50 families. However, with the advent of genetic testing and a better understanding of this condition, ADTKD is being increasingly recognized and is the third most common monogenic cause of kidney failure. The purpose of this review is to provide an understanding of the clinical characteristics of ADTKD and its subtypes with a practical approach to diagnosis and management for clinical nephrologists.

Název v anglickém jazyce

Autosomal Dominant Tubulointerstitial Kidney Disease: A Review

Popis výsledku anglicky

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized rare condition with 3 primary characteristics: autosomal dominant inheritance, bland urinary sediment (absence of hematuria and proteinuria), and chronic kidney disease (CKD) leading to kidney failure (need for kidney replacement therapy or kidney transplantation) between 20 and 80 years of age, with a mean age of kidney failure of approximately 45 years. Pathogenic variants in UMOD, MUC1, REN, and APOA4 have been identified as causative in ADTKD families. Prior to 2000, ADTKD was only diagnosed clinically and had been described in fewer than 50 families. However, with the advent of genetic testing and a better understanding of this condition, ADTKD is being increasingly recognized and is the third most common monogenic cause of kidney failure. The purpose of this review is to provide an understanding of the clinical characteristics of ADTKD and its subtypes with a practical approach to diagnosis and management for clinical nephrologists.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

American Journal of Kidney Diseases

ISSN

0272-6386

e-ISSN

1523-6838

Svazek periodika

86

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

13

Strana od-do

677-689

Kód UT WoS článku

001605600300015

EID výsledku v databázi Scopus

2-s2.0-105016647333