A 5-year-old boy with refractory rickets, polyuria, and hypokalemic metabolic alkalosis: Answers

被引：0

作者：

Chidambaram, Aakash Chandran ^{[1
]}

Krishnamurthy, Sriram ^{[1
]}

Darshith, Saragondlu Lakshminarasappa ^{[1
]}

Karunakar, Pediredla ^{[1
]}

Deepthi, Bobbity ^{[1
]}

Gunasekaran, Dhandapany ^{[1
]}

Ramamoorthy, Jaikumar Govindaswamy ^{[1
]}

机构：

[1] Jawaharlal Inst Postgrad Med Educ & Res JIPMER, Dept Pediat, Pondicherry 605006, India

来源：

PEDIATRIC NEPHROLOGY | 2021年 / 36卷 / 02期

关键词：

Refractory rickets; Polyuria; Hypokalemicmetabolic alkalosis; Dent's disease; Pseudo-Bartter; DENT DISEASE; BARTTER-SYNDROME; MOUSE MODEL; HYPERCALCIURIA; MUTATION; CHLORIDE; CLCN5; ENDOCYTOSIS; PATIENT; CUBILIN;

D O I：

10.1007/s00467-020-04616-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页码：297 / 302

页数：6

共 28 条

[21] Hypercalciuria in patients with CLCN5 mutations [J].

Ludwig, Michael ;

Utsch, Boris ;

Balluch, Bernd ;

Freund, Stefan ;

Kuwertz-Broeking, Eberhard ;

Boekenkamp, Arend .

PEDIATRIC NEPHROLOGY, 2006, 21 (09) :1241-1250

[22] Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients [J].

Moulin, P ;

Igarashi, T ;

Van der Smissen, P ;

Cosyns, JP ;

Verroust, P ;

Thakker, RV ;

Scheinman, SJ ;

Courtoy, PJ ;

Devuyst, O .

KIDNEY INTERNATIONAL, 2003, 63 (04) :1285-1295

[23] Megalin and cubilin in proximal tubule protein reabsorption: from experimental models to human disease [J].

Nielsen, Rikke ;

Christensen, Erik Ilso ;

Birn, Henrik .

KIDNEY INTERNATIONAL, 2016, 89 (01) :58-67

[24] A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5 [J].

Okamoto, Takayuki ;

Tajima, Toshihiro ;

Hirayama, Tomoya ;

Sasaki, Satoshi .

EUROPEAN JOURNAL OF PEDIATRICS, 2012, 171 (02) :401-404

[25] 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

[26] Isolated hypercalciuria with mutation in CLCN5:: Relevance to idiopathic hypercalciuria [J].

Scheinman, SJ ;

Cox, JPD ;

Lloyd, SE ;

Pearce, SHS ;

Salenger, PV ;

Hoopes, RR ;

Bushinsky, DA ;

Wrong, O ;

Asplin, JR ;

Langman, CB ;

Norden, AGW ;

Thakker, RV .

KIDNEY INTERNATIONAL, 2000, 57 (01) :232-239

[27] Vitamin A responsive night blindness in Dent's disease [J].

Sethi, Sidharth Kumar ;

Ludwig, Michael ;

Kabra, Madhulika ;

Hari, Pankaj ;

Bagga, Arvind .

PEDIATRIC NEPHROLOGY, 2009, 24 (09) :1765-1770

[28] Proteinuria in Dent disease: a review of the literature [J].

van Berkel, Youri ;

Ludwig, Michael ;

van Wijk, Joanna A. E. ;

Bokenkamp, Arend .

PEDIATRIC NEPHROLOGY, 2017, 32 (10) :1851-1859

← 1 2 3 →