TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients
TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients
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DOI：
10.1186/s13023-016-0553-5
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发表时间：
2017-01-05
影响因子：
3.7
通讯作者：
Jansen, Anna C.
中科院分区：
文献类型：
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作者：
Kingswood, John C.;d'Augeres, Guillaume B.;Jansen, Anna C.
背景：结节性硬化症(TSC)是一种罕见的常染色体显性遗传病。由于临床表现的复杂性，对TSC的认识仍有许多空白。提高疾病意识的结节性硬化症登记处(TOSCA)是一个国际疾病登记处，旨在解决结节性硬化症自然病史和管理方面的知识空白。在这里，我们提供了TOSCA队列的基线数据。方法：包括任何年龄的被诊断为TSC的患者，在过去12个月内有过TSC就诊记录的患者，或新诊断的个体。登记处包括一个“核心”部分，旨在记录每个患者的详细背景信息，包括在基线收集并每年更新的疾病表现、干预措施和结果。结果：截至2014年9月30日，来自31个国家170个地点的2093名患者的基线“核心”数据可用。患者登记时的中位年龄为13岁(范围0-71)，确诊时的中位年龄为1岁(范围0-69)。主要表现为皮质结节(82.2%)、室管膜下结节(78.2%)、室管膜下巨细胞星形细胞瘤(24.4%)、肾血管肌脂肪瘤(47.2%)、淋巴管肌瘤病(6.9%)、心脏横纹肌瘤(34.3%)、面部血管纤维瘤(57.3%)、额部斑块(14.1%)、黑色素沉着斑3例(66.8%)、皮肤绿斑(27.4%)。报告癫痫1748例(83.5%)，其中1372例在=2岁时确诊(78%)。在接受评估的患者中，有451人(54.9%)被确认为智力残疾。TSC相关神经精神障碍(TAND)的诊断较晚，30%-50%的患者未进行评估。结论：TOSCA是迄今为止最大的TSC临床病例系列。它提供了疾病轨迹的详细描述，并提高了对各种TSC表现的认识。本文报道的TSC不同特征的比率反映了为队列贡献患者的诊所的年龄范围和转诊模式。Tand和Lam的文献记载很差。广泛采用国际TSC评估和治疗指南，包括使用Tand Checklist，可以改善监测。该登记处对监测的必要性、治疗的时机和适应症提供了有价值的见解。
Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort.Methods: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included. The registry includes a "core" section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. "Subsections" of the registry recorded additional data related to specific features of TSC.Results: Baseline "core" data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13 years (range, 0-71) and at diagnosis of TSC was 1 year (range, 0-69). The occurrence rates of major manifestations of TSC included-cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), = 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at = 2 years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30-50% of patients.Conclusion: TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC.