Identification of a novel UMOD mutation (c. 163G > A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10376593" target="_blank" >RIV/00216208:11110/18:10376593 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1590/1414-431X20176560" target="_blank" >https://doi.org/10.1590/1414-431X20176560</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1590/1414-431X20176560" target="_blank" >10.1590/1414-431X20176560</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Identification of a novel UMOD mutation (c. 163G > A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Popis výsledku v původním jazyce

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G&gt;A, GGC -&gt; AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger individuals affected with the mutation were also identified. Clinical characteristics included a bland urinary sediment in all tested individuals and a kidney biopsy in one individual showing tubulointerstitial fibrosis. Unlike most other reported families with ADTKD-UMOD, neither gout nor hyperuricemia was found in affected individuals. In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause.

Název v anglickém jazyce

Identification of a novel UMOD mutation (c. 163G > A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Popis výsledku anglicky

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G&gt;A, GGC -&gt; AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger individuals affected with the mutation were also identified. Clinical characteristics included a bland urinary sediment in all tested individuals and a kidney biopsy in one individual showing tubulointerstitial fibrosis. Unlike most other reported families with ADTKD-UMOD, neither gout nor hyperuricemia was found in affected individuals. In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10600 - Biological sciences

Projekt

<a href="/cs/project/NV17-29786A" target="_blank" >NV17-29786A: Identifikace a charakterizace genetických faktorů dědičného tubulointersticiálního onemocnění ledvin</a><br>

Návaznosti

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

Rok uplatnění

2018

Kód důvěrnosti údajů

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

Název periodika

Brazilian Journal of Medical and Biological Research

ISSN

0100-879X

e-ISSN

—

Svazek periodika

51

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

BR - Brazilská federativní republika

Počet stran výsledku

7

Strana od-do

—

Kód UT WoS článku

000426976000001

EID výsledku v databázi Scopus

2-s2.0-85045857754