Nephropathic cystinosis: an international consensus document.

肾病性胱氨酸病 ： 国际共识文件。

• 影响指数: 7.186
• 发表时间: Sep 2014
• 来源期刊: Nephrol Dial Transplant
• DOI: 10.1093/ndt/gfu090
• PMID: 25165189
• 文章类型: Consensus Development Conference
• 中科院分区: Q1
• 方向: 医学
• 作者列表: Emma F,Nesterova G,Langman C,Labbé A,Cherqui S,Goodyer P,Janssen MC,Greco M,Topaloglu R,Elenberg E,Dohil R,Trauner D,Antignac C,Cochat P,Kaskel F,Servais A,Wühl E,Niaudet P,Van't Hoff W,Gahl W,Levtchenko E

关键词: CTNS gene; cysteamine treatment; cystinosis; extra-renal complications; renal Fanconi syndrome

Mesh: Child; Cystinosis / diagnosis genetics therapy; Fanconi Syndrome / diagnosis therapy; Humans; Practice Guidelines as Topic; Societies, Medical

Abstract

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.

摘要

胱抑素病是由CTNS基因突变引起的（17p13.2），编码溶酶体胱氨酸/质子同向转运蛋白，称为cystinosin。它是幼儿遗传性肾Fanconi综合征的最常见原因。因为它的稀有性,胱氨酸病的诊断和特异性治疗经常延迟，对整体预后有显著影响。在这份文件中,我们总结了专家对该疾病的几个方面的意见，以提高知识水平，为诊断和治疗提供指导。