Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F23%3A10465991" target="_blank" >RIV/00216208:11110/23:10465991 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/23:10465991

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=j5kDT7znEW" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=j5kDT7znEW</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.ekir.2023.01.017" target="_blank" >10.1016/j.ekir.2023.01.017</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

Popis výsledku v původním jazyce

Renin is a component of the renin-angiotensin system and plays an important role in the regulation of embryonic kidney development, blood pressure, kidney perfusion, and potassium and acid-base balance. Identification and characterization of renin mutations provide unique insight into the physiology of renin and its organ-specific functionality and regulation. Total loss of renin production because of bi-allelic loss-of-function REN mutations results in autosomal recessive renal tubular dysgenesis and death within the first week of life. Heterozygous REN mutations affecting synthesis and leading to intracellular deposition of mutant renin result in autosomal dominant tubulointerstitial kidney disease, with an age of onset and clinical presentation dependent on protein domain-specific mutations. Here, we describe a patient with bi-allelic REN mutations and loss of systemic renin activity but functional kidney development. This case illustrates that bi-allelic mutations of REN and other renin-angiotensin system genes may present as slowly progressive chronic kidney disease (CKD). Clinical presentation of the patient provides additional insight into REN genetic disorders and renin function in embryonic kidney development.

Název v anglickém jazyce

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

Popis výsledku anglicky

Renin is a component of the renin-angiotensin system and plays an important role in the regulation of embryonic kidney development, blood pressure, kidney perfusion, and potassium and acid-base balance. Identification and characterization of renin mutations provide unique insight into the physiology of renin and its organ-specific functionality and regulation. Total loss of renin production because of bi-allelic loss-of-function REN mutations results in autosomal recessive renal tubular dysgenesis and death within the first week of life. Heterozygous REN mutations affecting synthesis and leading to intracellular deposition of mutant renin result in autosomal dominant tubulointerstitial kidney disease, with an age of onset and clinical presentation dependent on protein domain-specific mutations. Here, we describe a patient with bi-allelic REN mutations and loss of systemic renin activity but functional kidney development. This case illustrates that bi-allelic mutations of REN and other renin-angiotensin system genes may present as slowly progressive chronic kidney disease (CKD). Clinical presentation of the patient provides additional insight into REN genetic disorders and renin function in embryonic kidney development.

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

2023

Kód důvěrnosti údajů

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

Název periodika

Kidney International Reports

ISSN

2468-0249

e-ISSN

2468-0249

Svazek periodika

8

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

1112-1116

Kód UT WoS článku

000999684300001

EID výsledku v databázi Scopus

2-s2.0-85148755516