Recommendations for the classification of diseases as CFTR-related disorders
Recommendations for the classification of diseases as CFTR-related disorders
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DOI：
10.1016/s1569-1993(11)60014-3
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发表时间：
2011-06-01
影响因子：
5.2
通讯作者：
Ferec, C.
中科院分区：
文献类型：
--
作者：
Bombieri, C.;Claustres, M.;Ferec, C.
一些疾病在临床上或遗传上与囊性纤维化（CF）有关，但缺乏共识的定义。在这里，我们提出了一个关于囊性纤维化跨膜传导调节因子（CFTR）相关疾病的共识指南的建议CFTR-RD可以定义为“与CFTR功能障碍相关的临床实体，其不满足CF的诊断标准”。汗液测试、突变分析、鼻电位差，和/或肠电流测量CF和CFTR-RD的鉴别诊断进行了讨论。算法，使用遗传和功能诊断测试，以区分CF和CFTR-RDs.According到目前的知识，先天性双侧输精管缺如（CBAVD），急性复发性或慢性胰腺炎和弥散性支气管扩张症，所有与CFTR功能障碍，CFTR-RDs。(C)2011年欧洲囊性纤维化协会。Elsevier B. V.出版，保留所有权利。
Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a proposal for consensus guidelines on cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (CFTR-RDs), reached after expert discussion and two dedicated workshops.A CFTR-RD may be defined as "a clinical entity associated with CFTR dysfunction that does not fulfil diagnostic criteria for CF".The utility of sweat testing, mutation analysis, nasal potential difference, and/or intestinal current measurement for the differential diagnosis of CF and CFTR-RD is discussed. Algorithms which use genetic and functional diagnostic tests to distinguish CF and CFTR-RDs are presented.According to present knowledge, congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis and disseminated bronchiectasis, all with CFTR dysfunction, are CFTR-RDs. (C) 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.