Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
The result's identifiers
Result code in 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>
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Kidney Diseases
ISSN
0272-6386
e-ISSN
1523-6838
Volume of the periodical
86
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
13
Pages from-to
677-689
UT code for WoS article
001605600300015
EID of the result in the Scopus database
2-s2.0-105016647333