Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.
复制标题
结节性硬化症复杂诊断标准更新：2012年iinternation Tuberous硬化症复杂共识会议的建议。
DOI：
10.1016/j.pediatrneurol.2013.08.001
复制
发表时间：
2013-10
影响因子：
3.8
通讯作者：
International Tuberous Sclerosis Complex Consensus Group
中科院分区：
文献类型：
--
作者：
Northrup H;Krueger DA;International Tuberous Sclerosis Complex Consensus Group
结节性硬化症复合物在临床表现和发现中有很大的变化。在受影响个体的一生中，疾病表现继续发展。准确的诊断是实施适当的医疗监测和治疗的基础。尽管过去15年来在理解和治疗结节性硬化症复合物方面取得了重大进展，但自1998年上一次临床共识会议以来，目前的临床诊断标准尚未进行严格评估或更新。
2012年国际结节性硬化症复杂的共识小组组成了来自14个国家 /地区的79名专家，分为12个小组委员会，每个小组委员会由临床医生领导，该临床医生在结节性硬化症综合体和相关的医学专业方面具有先进的专业知识。每个小组委员会都专注于具有重要诊断意义的特定疾病区域，并负责审查与疾病相关的临床发现的患病率和特异性及其对怀疑和确认结核性硬化症综合体的诊断的影响。
结节性硬化症复合物的临床特征仍然是诊断的主要手段。与1998年的标准相比，关键变化是基因检测结果的新包含，并将诊断类别从三个（可能，可能和确定的）减少到两个（可能，确定）。对特定标准进行了其他较小的更改，以进行其他澄清和简化。
2012年国际结节性硬化症复杂诊断标准提供了最新的，使用最佳证据来确定受影响个体的结节性硬化症复合物的诊断。
Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference in 1998. The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important diagnostic implications and was charged with reviewing prevalence and specificity of disease-associated clinical findings and their impact on suspecting and confirming the diagnosis of tuberous sclerosis complex. Clinical features of tuberous sclerosis complex continue to be a principal means of diagnosis. Key changes compared with 1998 criteria are the new inclusion of genetic testing results and reducing diagnostic classes from three (possible, probable, and definite) to two (possible, definite). Additional minor changes to specific criterion were made for additional clarification and simplification. The 2012 International Tuberous Sclerosis Complex Diagnostic Criteria provide current, updated means using best available evidence to establish diagnosis of tuberous sclerosis complex in affected individuals.
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影响因子：
4.6
作者：
Black, MD;Kadletz, M;Freedom, RM
通讯作者：
Freedom, RM
DOI：
10.1164/ajrccm.164.4.2011025
发表时间：
2001-08-15
影响因子：
24.7
作者：
Franz, DN;Brody, A;McCormack, FX
通讯作者：
McCormack, FX
影响因子：
13.8
作者：
Aldrich, Shelley L.;Hong, Chien-Hui;Darling, Thomas N.
通讯作者：
Darling, Thomas N.
影响因子：
2.6
作者：
Adriaensen, M. E. A. P. M.;Schaefer-Prokop, C. M.;Prokop, M.
通讯作者：
Prokop, M.
影响因子：
5
作者：
Fricke, BL;Donnelly, LF;Bissler, JJ
通讯作者：
Bissler, JJ