Observations of a large Dent disease cohort

被引：76

作者：

Blanchard, Anne ^{[1
,2
,3
,4
]}

Curis, Emmanuel ^{[5
,6
]}

Guyon-Roger, Tiphaine ^{[7
]}

Kahila, Diana ^{[8
]}

Treard, Cyrielle ^{[8
]}

Baudouin, Veronique ^{[4
,9
]}

Berard, Etienne ^{[10
]}

Champion, Gerard ^{[11
]}

Cochat, Pierre ^{[12
]}

Dubourg, Julie ^{[3
]}

de la Faille, Renaud ^{[13
]}

Devuyst, Olivier ^{[14
,15
]}

Deschenes, Georges ^{[4
,9
]}

Fischbach, Michel ^{[16
]}

Harambat, Jerome ^{[17
]}

Houillier, Pascal ^{[14
,18
]}

Karras, Alexandre ^{[19
]}

Knebelmann, Bertrand ^{[20
]}

Lavocat, Marie-Pierre ^{[21
]}

Loirat, Chantal ^{[4
,9
]}

Merieau, Elodie ^{[22
]}

Niaudet, Patrick ^{[1
,4
,21
]}

Nobili, Francois ^{[23
]}

Novo, Robert ^{[24
]}

Salomon, Remi ^{[1
,4
,21
]}

Ulinski, Tim ^{[4
,25
]}

Jeunemaitre, Xavier ^{[1
,2
,4
,8
]}

Vargas-Poussou, Rosa ^{[2
,4
,8
]}

机构：

[1] Univ Paris 05, Fac Med, Paris, France

[2] INSERM, UMR970, Paris Cardiovasc Res Ctr, Paris, France

[3] European Georges Pompidou Univ Hosp, AP HP, Clin Res Ctr, Paris, France

[4] Reference Ctr Hereditary Renal Dis Child & Adult, Paris, France

[5] Paris Descartes Univ, Fac Pharm, Lab Biomath, Sorbonne Paris Cite, F-75005 Paris, France

[6] INSERM, UMR 1144, Paris, France

[7] Jeanne Flanders Hosp, Nephrol, Univ Hosp Lille, Lille, France

[8] European Georges Pompidou Univ Hosp, AP HP, Dept Genet, Paris, France

[9] Robert Debre Univ Hosp, AP HP, Dept Pediat Nephrol, Paris, France

[10] Univ Hosp Nice, Dept Pediat Nephrol, Nice, France

[11] Univ Hosp Angers, Dept Pediat, LUNAM, Angers, France

[12] Hosp Civils Lyon, Dept Pediat Nephrol Rheumatol & Dermatol, Reference Ctr Rare Renal Dis, Lyon, France

[13] Univ Hosp Bordeaux, Dept Nephrol Dialysis Transplantat, Bordeaux, France

[14] Catholic Univ Louvain, Clin Univ St Luc, Brussels, Belgium

[15] Univ Zurich, Inst Psychol, Zurich, Switzerland

[16] Univ Hosp Hautepierre, Dept Pediat, Strasbourg, France

[17] Univ Hosp Bordeaux, Dept Pediat Nephrol, Bordeaux, France

[18] European Georges Pompidou Univ Hosp, AP HP, Dept Physiol, Paris, France

[19] European Georges Pompidou Univ Hosp, AP HP, Dept Nephrol, Paris, France

[20] Necker Enfants Malad Univ Hosp, AP HP, Dept Pediat Nephrol, Paris, France

[21] Univ Hosp St Etienne, North Hosp, Dept Pediat, St Etienne, France

[22] Univ Hosp Tours, Pediat Nephrol Dept, Tours, France

[23] Univ Hosp Besancon, Unit Pediat Nephrol, Besancon, France

[24] Univ Hosp Jeanne Flandre, Pediat Nephrol Dept, Lille, France

[25] Trousseau Univ Hosp, AP HP, Dept Nephrol & Kidney Transplantat, Paris, France

来源：

KIDNEY INTERNATIONAL | 2016年 / 90卷 / 02期

基金：

瑞士国家科学基金会;

关键词：

Dent disease; hypercalciuria-hypokalemia; proteinuria; renal failure; MOLECULAR-WEIGHT PROTEINURIA; GLOMERULAR-FILTRATION-RATE; CHLORIDE CHANNEL; MOUSE MODEL; CLCN5; GENE; MUTATIONS; CLC-5; HYPERCALCIURIA; EQUATION; IDENTIFICATION;

D O I：

10.1016/j.kint.2016.04.022

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：

Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or whether there is any phenotype-genotype relationship. To answer this we retrospectively analyzed data from 109 male patients with CLCN5 mutations (Dent-1) and 9 patients with mutation of the OCRL gene (Dent-2). In Dent-1 disease, the estimated GFR decreased with age, by 1.0 to 1.6 ml/min per 1.73 m(2)/yr in the absence and presence of nephrocalcinosis, respectively, with no significant difference. Median values of low-molecular-weight proteinuria were in the nephrotic range and remained at the same level even in late renal disease. End-stage renal disease occurred in 12 patients, at a median age of 40 years. Hypercalciuria decreased with glomerular filtration and was absent in 40% of the patients under 30 and 85% of those over the age of 30. Hypophosphatemia did not resolve with age and calcitriol concentrations were in the upper normal range. Kalemia decreased with age, with half of the patients over the age of 18 presenting with hypokalemia. Thus, no phenotype/genotype correlation was observed in this cohort of patients with Dent disease.

引用

页码：430 / 439

页数：10

共 43 条

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