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

Result code in 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>

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10600 - Biological sciences

Project

<a href="/en/project/NV17-29786A" target="_blank" >NV17-29786A: Identification and characterization of genetic factors contributing to inherited tubulointerstitial kidney disease</a><br>

Continuities

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

Publication year

2018

Confidentiality

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

Name of the periodical

Brazilian Journal of Medical and Biological Research

ISSN

0100-879X

e-ISSN

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Volume of the periodical

51

Issue of the periodical within the volume

3

Country of publishing house

BR - BRAZIL

Number of pages

7

Pages from-to

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UT code for WoS article

000426976000001

EID of the result in the Scopus database

2-s2.0-85045857754