Nephropathic cystinosis: an international consensus document

被引：145

作者：

Emma, Francesco ^{[1
]}

Nesterova, Galina ^{[2
]}

Langman, Craig ^{[3
,4
]}

Labbe, Antoine ^{[5
,6
]}

Cherqui, Stephanie ^{[7
]}

Goodyer, Paul ^{[8
]}

Janssen, Mirian C. ^{[9
]}

Greco, Marcella ^{[1
]}

Topaloglu, Rezan ^{[10
]}

Elenberg, Ewa ^{[11
]}

Dohil, Ranjan ^{[12
]}

Trauner, Doris ^{[13
]}

Antignac, Corinne ^{[14
,15
,16
]}

Cochat, Pierre ^{[17
,18
]}

Kaskel, Frederick ^{[19
]}

Servais, Aude ^{[20
]}

Wuehl, Elke ^{[21
]}

Niaudet, Patrick ^{[22
]}

Van't Hoff, William ^{[23
]}

Gahl, William ^{[2
]}

Levtchenko, Elena ^{[24
]}

机构：

[1] Bambino Gesu Childrens Hosp IRCCS, Div Nephrol & Dialysis, Rome, Italy

[2] NHGRI, Sect Human Biochem Genet, Human Genet Branch, NIH, Bethesda, MD 20892 USA

[3] Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA

[4] Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL USA

[5] Paris & Versailles St Quentin En Yvelines Univ, Quinze Vingts Natl Ophthalmol Hosp, Versailles, France

[6] Quinze Vingts Natl Ophthalmol Hosp, Clin Invest Ctr, INSERM, Paris, France

[7] Univ Calif San Diego, Dept Pediat, Div Genet, La Jolla, CA 92093 USA

[8] McGill Univ, Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada

[9] Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, NL-6525 ED Nijmegen, Netherlands

[10] Hacettepe Univ, Fac Med, Dept Pediat, Div Pediat Nephrol, TR-06100 Ankara, Turkey

[11] Texas Childrens Hosp, Baylor Coll Med, Renal Serv, Houston, TX 77030 USA

[12] Univ Calif San Diego, Dept Pediat, Rady Childrens Hosp, San Diego, CA 92103 USA

[13] Univ Calif San Diego, Sch Med, Dept Neurosci, San Diego, CA 92103 USA

[14] INSERM, UMR 1163, Lab Inherited Kidney Dis, Paris, France

[15] Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France

[16] Hop Necker Enfants Malad, APHP, Dept Genet, Paris, France

[17] Hosp Civils Lyon, Ctr Reference Malad Renales Rares, Lyon, France

[18] Univ Lyon 1, F-69365 Lyon, France

[19] Childrens Hosp Montefiore, Bronx, NY USA

[20] Paris Descartes Univ, Hop Necker Enfants Malad, APHP, Dept Adult Nephrol, Paris, France

[21] Heidelberg Univ, Ctr Pediat & Adolescent Med, Div Pediat Nephrol, Heidelberg, Germany

[22] Univ Paris 05, Hop Necker Enfants Malad, Paris, France

[23] Great Ormond St Hosp Sick Children, London, England

[24] Katholieke Univ Leuven, Univ Hosp Leuven, Dept Pediat Nephrol & Growth & Regenerat, Leuven, Belgium

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2014年 / 29卷

关键词：

CTNS gene; cysteamine treatment; cystinosis; extra-renal complications; renal Fanconi syndrome; CYSTEAMINE THERAPY; INFANTILE CYSTINOSIS; RENAL-FUNCTION; LYSOSOMAL STORAGE; EPITHELIAL-CELLS; NATURAL-HISTORY; GROWTH-HORMONE; CHILDREN; GENE; TRANSPLANTATION;

D O I：

10.1093/ndt/gfu090

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

100103 [病原生物学]; 100218 [急诊医学];

摘要：

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.

引用

页码：87 / 94

页数：8

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