Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
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DOI：
10.1177/088307389801301206
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发表时间：
1998-12-01
影响因子：
1.9
通讯作者：
Northrup, H
中科院分区：
文献类型：
--
作者：
Roach, ES;Gomez, MR;Northrup, H
在最近的结节性硬化症共识会议上，对结节性硬化症的临床诊断标准进行了简化和修订，以反映关于结节性硬化症的新的临床信息，以及来自分子遗传学研究对疾病的更好理解。基于这一新的信息，一些曾经被认为是结节性硬化症的病征的临床症状现在被认为不那么特异。所有受影响的患者都没有单一的体征，也没有证据表明任何单一的临床或放射学体征对结节性硬化症是绝对特异的。因此，结节性硬化症的临床和放射学特征现在已经根据每种特征对结节性硬化症的明显特异性程度分为主要和次要两类。结节性硬化症的明确诊断现在需要两种或两种以上不同类型的病变，而不是同一器官系统中同一类型的多个病变。尽管在少数患者中，单纯基于临床原因的诊断可能仍然很困难，但对于那些符合这些严格标准的患者，诊断应该是毫无疑问的。患有结节性硬化症的夫妇有一个以上的孩子，没有广泛的家族病史，也没有结节性硬化症的临床特征，比不表达突变更有可能患有结节性硬化症的种系嵌合体。生殖系嵌合体，虽然幸运的是罕见，但无论是从诊断标准还是分子测试都不会被怀疑，直到一对夫妇有多个受影响的孩子。对于有一个受影响的孩子的家庭，遗传咨询应该包括很小的(1%到2%)复发可能性，即使是对经过彻底的诊断评估后没有证据表明结节性硬化症的父母也是如此。
At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex were simplified and revised to reflect both new clinical information about tuberous sclerosis complex and an improved understanding of the disorder derived from molecular genetic studies. Based on this new information, some clinical signs once regarded as pathognomonic for tuberous sclerosis complex are now known to be less specific. No single sign is present in all affected patients, and there is no proof that any single clinical or radiographic sign is absolutely specific for tuberous sclerosis complex. Accordingly, the clinical and radiographic features of tuberous sclerosis complex have now been divided into major and minor categories based on the apparent degree of specificity for tuberous sclerosis complex of each feature. A definitive diagnosis of tuberous sclerosis complex now requires two or more distinct types of lesions, rather than multiple lesions of the same type in the same organ system. Although diagnosis on purely clinical grounds can continue to be difficult in a few patients, there should be little doubt about the diagnosis for those individuals who fulfill these strict criteria. Couples with more than one child with tuberous sclerosis complex, no extended family history, and no clinical features of tuberous sclerosis complex are more likely to have germline mosaicism for tuberous sclerosis than nonexpression of the mutation. Germline mosaicism, while fortunately rare, will not be suspected from either diagnostic criteria or molecular testing until a couple has multiple affected children. Genetic counseling for families with one affected child should include a small (1% to 2%) possibility of recurrence, even for parents who have no evidence of tuberous sclerosis complex after a thorough diagnostic evaluation.