Tuberous sclerosis: a survey in the canton of Vaud, Switzerland.

IF 3.1 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL
Frontiers in Medicine Pub Date : 2024-12-12 eCollection Date: 2024-01-01 DOI:10.3389/fmed.2024.1513619
Olivia Hagon-Nicod, Florence Fellmann, Jan Novy, Sébastien Lebon, Christian Wider, Romain Lazor, Olivier Bonny
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引用次数: 0

Abstract

Aim of the study: Tuberous sclerosis complex (TSC) is a genetic and multisystemic disorder that affects between 1/6'000 and 1/10'000 of newborns. Clinical criteria and/or genetic analysis establish the diagnosis. The mechanistic target of rapamycin (mTOR) inhibitors everolimus or sirolimus reduce the severity of several TSC-related clinical traits. We report here on the epidemiology and management of TSC patients in a large Swiss canton: the canton of Vaud.

Method: We extracted patient files containing the diagnostic code TSC in 2015 at the Lausanne University hospital (tertiary reference center for a population of about 755'000 people) and in specialized neurological institutions of the same region.

Results: We identified 52 patients with a diagnosis of TSC. The majority of the patients with a pathologic result in genetic testing were positive for a pathogenic variant in the TSC2 gene, including five cases of contiguous gene deletion syndrome of TSC2 and PKD1 causing both polycystic kidney disease and TSC. The most frequent clinical manifestations encountered were affecting the skin (87% of patients), the brain (83%), the heart (46%) and the kidneys (46%). Neuropsychiatric disorders were described in 56% of cases. At the time of data collection (2015), there were 2 patients using systemic mTOR inhibitors and 16 patients using topical mTOR inhibitors for dermatological features. Next, we compared this data with those of large published cohorts. While we found fewer cases than expected for the screened population, demographic as well as genetic data were overall similar to the literature. However, we observed that some clinical manifestations (renal, lung and neuropsychiatric disorders) were less frequently described in our cohort.

Conclusion: This work indicates that TSC and some of its clinical manifestations is under-reported. It raises concern that patients with mild manifestations are often not referred to reference centers with dedicated multidisciplinary group. The follow-up by expert board is instrumental in offering systematic screening of all putatively affected organs and to assess the eligibility for targeted treatment.

结节性硬化:瑞士沃州的一项调查。
研究目的:结节性硬化症(TSC)是一种遗传性多系统疾病,影响1/ 6000到1/ 10000的新生儿。临床标准和/或基因分析确定诊断。雷帕霉素(mTOR)抑制剂依维莫司或西罗莫司的机制靶点可降低几种tsc相关临床特征的严重程度。我们在此报告瑞士沃州大州TSC患者的流行病学和管理情况。方法:提取2015年洛桑大学医院(人口约75.5万人的三级参考中心)和同一地区神经专科机构包含诊断代码TSC的患者档案。结果:我们确定了52例诊断为TSC的患者。大多数基因检测病理结果为TSC2基因致病性变异阳性的患者,包括5例TSC2和PKD1的连续基因缺失综合征,导致多囊肾病和TSC。最常见的临床表现是影响皮肤(87%)、大脑(83%)、心脏(46%)和肾脏(46%)。56%的病例被描述为神经精神疾病。在数据收集时(2015年),有2例患者使用全身性mTOR抑制剂,16例患者因皮肤特征使用局部mTOR抑制剂。接下来,我们将这些数据与已发表的大型队列数据进行比较。虽然我们在筛查人群中发现的病例少于预期,但人口统计学和遗传数据总体上与文献相似。然而,我们观察到一些临床表现(肾脏、肺和神经精神疾病)在我们的队列中较少被描述。结论:本研究提示TSC及其部分临床表现报道不足。这引起了人们的关注,轻度症状的患者往往没有被转介到专门的多学科小组的参考中心。专家委员会的随访有助于对所有假定受影响的器官进行系统筛查,并评估是否有资格接受靶向治疗。
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来源期刊
Frontiers in Medicine
Frontiers in Medicine Medicine-General Medicine
CiteScore
5.10
自引率
5.10%
发文量
3710
审稿时长
12 weeks
期刊介绍: Frontiers in Medicine publishes rigorously peer-reviewed research linking basic research to clinical practice and patient care, as well as translating scientific advances into new therapies and diagnostic tools. Led by an outstanding Editorial Board of international experts, this multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. In addition to papers that provide a link between basic research and clinical practice, a particular emphasis is given to studies that are directly relevant to patient care. In this spirit, the journal publishes the latest research results and medical knowledge that facilitate the translation of scientific advances into new therapies or diagnostic tools. The full listing of the Specialty Sections represented by Frontiers in Medicine is as listed below. As well as the established medical disciplines, Frontiers in Medicine is launching new sections that together will facilitate - the use of patient-reported outcomes under real world conditions - the exploitation of big data and the use of novel information and communication tools in the assessment of new medicines - the scientific bases for guidelines and decisions from regulatory authorities - access to medicinal products and medical devices worldwide - addressing the grand health challenges around the world
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