Familial chronic interstitial nephropathy with hyperuricaemia caused by the UMOD gene

被引：4

作者：

Ayasreh-Fierro, Nadia ^{[1
]}

Ars-Criach, Elisabet ^{[2
]}

Lopes-Martin, Vanesa ^{[3
]}

Arce-Terroba, Yolanda ^{[4
]}

Ruiz-del Prado, Patricia ^{[2
]}

Ballarin-Castan, Jose ^{[1
]}

Torra-Balcells, Roser ^{[1
]}

机构：

[1] Fdn Puigvert, Serv Nefrol, Barcelona 08025, Spain

[2] Fdn Puigvert, Lab Biol Mol, Barcelona 08025, Spain

[3] Univ Alcala REDINREN, Hosp Univ Principe Asturias, Serv Nefrol, Madrid, Spain

[4] Fdn Puigvert, Barcelona 08025, Spain

来源：

NEFROLOGIA | 2013年 / 33卷 / 04期

关键词：

CYSTIC KIDNEY-DISEASE; UROMODULIN GENE; MUTATIONS; LOCUS; IDENTIFICATION; PROTEIN; TYPE-1;

D O I：

10.3265/Nefrologia.pre2013.Apr.11960

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：587 / 592

页数：6

共 31 条

[1] Familial juvenile hyperuricaemic nephropathy [J].

Bleyer, AJ ;

Hart, TC .

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2003, 96 (11) :867-868

[2] Hereditary Interstitial Kidney Disease [J].

Bleyer, Anthony J. ;

Hart, P. Suzanne ;

Kmoch, Stanislav .

SEMINARS IN NEPHROLOGY, 2010, 30 (04) :366-373

[3] Improving the Recognition of Hereditary Interstitial Kidney Disease [J].

Bleyer, Anthony J. .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2009, 20 (01) :11-13

[4] Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations [J].

Bollee, Guillaume ;

Dahan, Karin ;

Flamant, Martin ;

Moriniere, Vincent ;

Pawtowski, Audrey ;

Heidet, Laurence ;

Lacombe, Didier ;

Devuyst, Olivier ;

Pirson, Yves ;

Antignac, Corinne ;

Knebelmann, Bertrand .

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2011, 6 (10) :2429-2438

[5] Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD) [J].

Christodoulou, K ;

Tsingis, M ;

Stavrou, C ;

Eleftheriou, A ;

Papapavlou, P ;

Patsalis, PC ;

Ioannou, P ;

Pierides, A ;

Deltas, CC .

HUMAN MOLECULAR GENETICS, 1998, 7 (05) :905-911

[6]

Coto Garcia E, 2011, NEFROLOGIA SUP EXT, V2, P74

[7] A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin [J].

Dahan, K ;

Devuyst, O ;

Smaers, M ;

Vertommen, D ;

Loute, G ;

Poux, JM ;

Viron, B ;

Jacquot, C ;

Gagnadoux, MF ;

Chauveau, D ;

Büchler, M ;

Cochat, P ;

Cosyns, JP ;

Mougenot, B ;

Rider, MH ;

Antignac, C ;

Verellen-Dumoulin, C ;

Pirson, Y .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2003, 14 (11) :2883-2893

[8]

Dahan K, 2001, J AM SOC NEPHROL, V12, P2348, DOI 10.1681/ASN.V12112348

[9] Uromodulin in Kidney Injury: An Instigator, Bystander, or Protector? [J].

El-Achkar, Tarek M. ;

Wu, Xue-Ru .

AMERICAN JOURNAL OF KIDNEY DISEASES, 2012, 59 (03) :452-461

[10] Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood [J].

Faguer, Stanislas ;

Decramer, Stephane ;

Chassaing, Nicolas ;

Bellanne-Chantelot, Christine ;

Calvas, Patrick ;

Beaufils, Sandrine ;

Bessenay, Lucie ;

Lengele, Jean-Philippe ;

Dahan, Karine ;

Ronco, Pierre ;

Devuyst, Olivier ;

Chauveau, Dominique .

KIDNEY INTERNATIONAL, 2011, 80 (07) :768-776

← 1 2 3 4 →