• Je něco špatně v tomto záznamu ?

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

LB. Lopes, CC. Abreu, CF. Souza, LER. Guimaraes, AA. Silva, F. Aguiar-Alves, KO. Kidd, S. Kmoch, AJ. Bleyer, JR. Almeida,

. 2018 ; 51 (3) : e6560. [pub] 20180301

Jazyk angličtina Země Brazílie

Typ dokumentu kazuistiky, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc18024318

Grantová podpora
NV17-29786A MZ0 CEP - Centrální evidence projektů

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>A, GGC→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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc18024318
003      
CZ-PrNML
005      
20180712113135.0
007      
ta
008      
180709s2018 bl f 000 0|eng||
009      
AR
024    7_
$a 10.1590/1414-431X20176560 $2 doi
035    __
$a (PubMed)29513881
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a bl
100    1_
$a Lopes, L B $u Laboratório Multiusuário de Apoio è Pesquisa em Nefrologia e Ciências Médicas (LAMAP), Departamento de Patologia, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brasil.
245    10
$a Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease / $c LB. Lopes, CC. Abreu, CF. Souza, LER. Guimaraes, AA. Silva, F. Aguiar-Alves, KO. Kidd, S. Kmoch, AJ. Bleyer, JR. Almeida,
520    9_
$a 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>A, GGC→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.
650    _2
$a biopsie $7 D001706
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a genotyp $7 D005838
650    _2
$a lidé $7 D006801
650    _2
$a lidé středního věku $7 D008875
650    _2
$a mutace $x genetika $7 D009154
650    _2
$a rodokmen $7 D010375
650    _2
$a polycystické ledviny autozomálně dominantní $x genetika $x patologie $7 D016891
650    _2
$a uromodulin $x genetika $7 D058949
655    _2
$a kazuistiky $7 D002363
655    _2
$a časopisecké články $7 D016428
700    1_
$a Abreu, C C $u Laboratório Multiusuário de Apoio è Pesquisa em Nefrologia e Ciências Médicas (LAMAP), Departamento de Medicina Clínica, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brasil.
700    1_
$a Souza, C F $u Laboratório Multiusuário de Apoio è Pesquisa em Nefrologia e Ciências Médicas (LAMAP), Departamento de Medicina Clínica, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brasil.
700    1_
$a Guimaraes, L E R $u Laboratório Multiusuário de Apoio è Pesquisa em Nefrologia e Ciências Médicas (LAMAP), Departamento de Medicina Clínica, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brasil.
700    1_
$a Silva, A A $u Laboratório Multiusuário de Apoio è Pesquisa em Nefrologia e Ciências Médicas (LAMAP), Departamento de Patologia, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brasil.
700    1_
$a Aguiar-Alves, F $u Programa de Pós-Graduação em Patologia, Faculdade de Medicina e Laboratório Rodolpho Albino, Universidade Federal Fluminense, Niterói, RJ, Brasil. Departamento de Ciências Básicas, Polo Universitário de Nova Friburgo, Universidade Federal Fluminense, Nova Friburgo, RJ, Brasil.
700    1_
$a Kidd, K O $u Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
700    1_
$a Kmoch, S $u Institute for Inherited Metabolic Disorders, and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
700    1_
$a Bleyer, A J $u Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
700    1_
$a Almeida, J R $u Laboratório Multiusuário de Apoio è Pesquisa em Nefrologia e Ciências Médicas (LAMAP), Departamento de Medicina Clínica, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brasil.
773    0_
$w MED00005259 $t Brazilian journal of medical and biological research Revista brasileira de pesquisas medicas e biologicas $x 1414-431X $g Roč. 51, č. 3 (2018), s. e6560
856    41
$u https://pubmed.ncbi.nlm.nih.gov/29513881 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20180709 $b ABA008
991    __
$a 20180712113428 $b ABA008
999    __
$a ok $b bmc $g 1316449 $s 1021239
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2018 $b 51 $c 3 $d e6560 $e 20180301 $i 1414-431X $m Brazilian journal of medical and biological research $n Braz J Med Biol Res $x MED00005259
GRA    __
$a NV17-29786A $p MZ0
LZP    __
$a Pubmed-20180709

Najít záznam

Citační ukazatele

Možnosti archivace