Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
Tissue Bioengineering, BioTis, U1026, INSERM DR Aquitaine Poitou-Charentes, Bordeaux, France.
J Med Genet. 2021 Jan;58(1):25-31. doi: 10.1136/jmedgenet-2019-106607. Epub 2020 May 14.
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines.
Our study aimed to give a complete description of our TSC adult cohort and to evaluate the multidisciplinary and interdisciplinary management model.
Data on each adult patient diagnosed with TSC, including disease manifestations, interventions and outcomes, were collected at baseline and updated annually. A multidisciplinary TSC approach with all the recommended explorations was carried out annually.
90 patients were enrolled in Centre Hospitalier Universitaire de Bordeaux, between January 2000 and September 2018. Median age of patients at inclusion was 37 years (range, 27-47) and 20 years old at diagnosis of TSC. Regarding the occurrence of TSC manifestations, 97% of the patients had cutaneous lesions, 89% had neurological manifestations, 83% had renal manifestations and 100% had dental lesions with pits. More than half the patients had sclerotic bone lesions (68%), TSC-associated neuropsychiatric disorders (64%) and lymphangioleiomyomatosis (59%). A TSC multidisciplinary approach was developed including a global follow-up and an evaluation of TSC targeting organs, according to the recommendations. A satisfaction survey revealed global and entire satisfaction of patients with TSC.
We obtained an accurate description of a cohort of adult patients with TSC. Our multidisciplinary approach model allowed us to provide optimal management of patients with TSC with a high level of patient satisfaction.
结节性硬化症（TSC）是一种罕见的常染色体显性遗传疾病。由于 TSC 的多种表现及其潜在并发症，共识指南建议采用多学科护理方法。
我们的研究旨在全面描述我们的 TSC 成年患者队列，并评估多学科和跨学科管理模式。
在基线时收集每位被诊断为 TSC 的成年患者的数据，包括疾病表现、干预措施和结果，并每年更新。每年进行一次多学科 TSC 方法，包括所有推荐的检查。
2000 年 1 月至 2018 年 9 月，在波尔多大学附属医院共纳入 90 名患者。纳入患者的中位年龄为 37 岁（范围 27-47 岁），诊断 TSC 时的年龄为 20 岁。关于 TSC 表现的发生，97%的患者有皮肤损伤，89%有神经系统表现，83%有肾脏表现，100%有牙釉质凹陷。超过一半的患者有硬化性骨病变（68%）、TSC 相关神经精神障碍（64%）和淋巴管平滑肌瘤病（59%）。根据建议，开发了一种 TSC 多学科方法，包括全面的随访和对 TSC 靶向器官的评估。满意度调查显示，TSC 患者的满意度很高。
我们获得了 TSC 成年患者队列的准确描述。我们的多学科方法模型使我们能够为 TSC 患者提供最佳管理，并获得高度的患者满意度。
