Dent disease presenting as partial Fanconi syndrome and hypercalciuria

被引：18

作者：

Hodgin, J. B. ^{[1
]}

Corey, H. E.

Kaplan, B. S. ^{[2
]}

D'Agati, V. D. ^{[1
]}

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Pathol, New York, NY 10032 USA

[2] Childrens Hosp Philadelphia, Dept Pediat Nephrol, Philadelphia, PA 19104 USA

来源：

KIDNEY INTERNATIONAL | 2008年 / 73卷 / 11期

关键词：

D O I：

10.1038/sj.ki.5002785

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：

[No abstract available]

引用

页码：1320 / 1323

页数：4

共 24 条

[1] Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells [J].

Carr, G ;

Simmons, NL ;

Sayer, JA .

CELLULAR AND MOLECULAR LIFE SCIENCES, 2006, 63 (03) :367-377

[2] High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease [J].

Cebotaru, V ;

Kaul, S ;

Devuyst, O ;

Cai, H ;

Racusen, L ;

Guggino, WB ;

Guggino, SE .

KIDNEY INTERNATIONAL, 2005, 68 (02) :642-652

[3] Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis [J].

Copelovitch, Lawrence ;

Nash, Martin A. ;

Kaplan, Bernard S. .

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2007, 2 (05) :914-918

[4] HYPERCALCURIC RICKETS ASSOCIATED WITH RENAL TUBULAR DAMAGE [J].

DENT, CE ;

FRIEDMAN, M .

ARCHIVES OF DISEASE IN CHILDHOOD, 1964, 39 (205) :240-&

[5] Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease [J].

Devuyst, O ;

Christie, PT ;

Courtoy, PJ ;

Beauwens, R ;

Thakker, RV .

HUMAN MOLECULAR GENETICS, 1999, 8 (02) :247-257

[6] 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

[7] X-LINKED RECESSIVE NEPHROLITHIASIS WITH RENAL-FAILURE [J].

FRYMOYER, PA ;

SCHEINMAN, SJ ;

DUNHAM, PB ;

JONES, DB ;

HUEBER, P ;

SCHROEDER, ET .

NEW ENGLAND JOURNAL OF MEDICINE, 1991, 325 (10) :681-686

[8] ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells [J].

Günther, W ;

Lüchow, A ;

Cluzeaud, F ;

Vandewalle, A ;

Jentsch, TJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (14) :8075-8080

[9] 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

[10] A common molecular basis for three inherited kidney stone diseases [J].

Lloyd, SE ;

Pearce, SHS ;

Fisher, SE ;

Steinmeyer, K ;

Schwappach, B ;

Scheinman, SJ ;

Harding, B ;

Bolino, A ;

Devoto, M ;

Goodyer, P ;

Rigden, SPA ;

Wrong, O ;

Jentsch, TJ ;

Craig, IW ;

Thakker, RV .

NATURE, 1996, 379 (6564) :445-449

← 1 2 3 →