CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child:: an unusual presentation of Dent's disease

被引：30

作者：

Besbas, N

Ozaltin, F

Jeck, N

Seyberth, H

Ludwig, M

机构：

[1] Hacettepe Univ, Fac Med, Dept Pediat, Nephrol Unit, TR-06100 Ankara, Turkey

[2] Univ Marburg, Dept Pediat, Marburg, Germany

[3] Univ Bonn, Dept Clin Biochem, D-5300 Bonn, Germany

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2005年 / 20卷 / 07期

关键词：

chloride channel 5 (ClC-5); CLCN5; gene; Dent's disease; metabolic alkalosis;

D O I：

10.1093/ndt/gfh799

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

[No abstract available]

引用

页码：1476 / 1479

页数：4

共 13 条

[1] Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis [J].

Akuta, N ;

Lloyd, SE ;

Igarashi, T ;

Shiraga, H ;

Matsuyama, T ;

Yokoro, S ;

Cox, JPD ;

Thakker, RV .

KIDNEY INTERNATIONAL, 1997, 52 (04) :911-916

[2] Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure [J].

Birkenhäger, R ;

Otto, E ;

Schürmann, MJ ;

Vollmer, M ;

Ruf, EM ;

Maier-Lutz, I ;

Beekmann, F ;

Fekete, A ;

Omran, H ;

Feldmann, D ;

Milford, DV ;

Jeck, N ;

Konrad, M ;

Landau, D ;

Knoers, NVAM ;

Antignac, C ;

Sudbrak, R ;

Kispert, A ;

Hildebrandt, F .

NATURE GENETICS, 2001, 29 (03) :310-314

[3] CLONING AND CHARACTERIZATION OF CLCN5, THE HUMAN KIDNEY CHLORIDE CHANNEL GENE IMPLICATED IN DENT DISEASE (AN X-LINKED HEREDITARY NEPHROLITHIASIS) [J].

FISHER, SE ;

VANBAKEL, I ;

LLOYD, SE ;

PEARCE, SHS ;

THAKKER, RV ;

CRAIG, IW .

GENOMICS, 1995, 29 (03) :598-606

[4] Evidence for genetic heterogeneity in Dent's disease [J].

Hoopes, RR ;

Raja, KM ;

Koich, A ;

Hueber, P ;

Reid, R ;

Knohl, SJ ;

Scheinman, SJ .

KIDNEY INTERNATIONAL, 2004, 65 (05) :1615-1620

[5] Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant [J].

Ludwig, M ;

Waldegger, S ;

Nuutinen, M ;

Bökenkamp, A ;

Reissinger, A ;

Steckelbroeck, S ;

Utsch, B .

KIDNEY & BLOOD PRESSURE RESEARCH, 2003, 26 (03) :176-184

[6]

Morimoto T, 1998, J AM SOC NEPHROL, V9, P811

[7] Responsiveness of hypercalciuria to thiazide in Dent's disease [J].

Raja, KA ;

Schurman, S ;

D'Mello, RG ;

Blowey, D ;

Goodyer, P ;

Van Why, S ;

Ploutz-Snyder, RJ ;

Asplin, J ;

Scheinman, SJ .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (12) :2938-2944

[8] Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK [J].

Simon, DB ;

Karet, FE ;

RodriguezSoriano, J ;

Hamdan, JH ;

DiPietro, A ;

Trachtman, H ;

Sanjad, SA ;

Lifton, RP .

NATURE GENETICS, 1996, 14 (02) :152-156

[9] Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter [J].

Simon, DB ;

NelsonWilliams, C ;

Bia, MJ ;

Ellison, D ;

Karet, FE ;

Molina, AM ;

Vaara, I ;

Iwata, F ;

Cushner, HM ;

Koolen, M ;

Gainza, FJ ;

Gitelman, HJ ;

Lifton, RP .

NATURE GENETICS, 1996, 12 (01) :24-30

[10] Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2 [J].

Simon, DB ;

Karet, FE ;

Hamdan, JM ;

DiPietro, A ;

Sanjad, SA ;

Lifton, RP .

NATURE GENETICS, 1996, 13 (02) :183-188

← 1 2 →