Jurca Aurora Alexandra, Hodisan Ramona, Jurca Alexandru Daniel, Severin Emilia, Jurca Sanziana, Trandafir Ana, Ilias Tiberia, Vesa Cosmin, Jurca Claudia Maria
Doctoral School of Biological and Biomedical Sciences, University of Oradea, 410087 Oradea, Romania.
Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410087 Oradea, Romania.
J Clin Med. 2025 Apr 25;14(9):2974. doi: 10.3390/jcm14092974.
: Tuberous sclerosis complex (TSC) is a rare multisystemic genetic disorder characterized by the formation of benign tumors in various organs, including the central nervous system, skin, kidneys, and heart. The diagnosis is based on well-defined clinical criteria, such as those from Schwartz (2007) updated in 2012 by the International Tuberous Sclerosis Complex Consensus Group. The study aims to investigate the clinical, imaging, and molecular characteristics of patients diagnosed with tuberous sclerosis and to explore the correlation between specific genetic mutations ( and genes) and the severity of clinical manifestations. : This is a retrospective longitudinal study of 13 patients diagnosed with tuberous sclerosis, identified in the records of the Bihor Regional Center for Medical Genetics (BRCMG) within the Bihor County Emergency Clinical Hospital from 1984 to 2024. Clinical, imaging, and molecular features were assessed. Patients were evaluated by a multidisciplinary team, including a geneticist, pediatrician, neurologist, psychiatrist, and psychologist. Clinical and imaging data were retrospectively collected from the congenital malformations and genetic disease records of BRCMG Bihor and statistically analyzed. : All patients showed clinical and imaging signs consistent with the diagnosis of tuberous sclerosis. Neurological manifestations were present in 83% of patients, including epilepsy and cognitive delays. Renal lesions were detected in 46% of cases, and dermatological lesions, such as facial angiofibromas, were observed in 69% of patients. Mutational variants identified in the gene correlated with a more severe clinical presentation, including severe intellectual disability and treatment-resistant seizures, compared to variants in the gene. : Our study, although involving a small number of patients, highlights the clinical heterogeneity of tuberous sclerosis and the importance of a multidisciplinary approach in patient management. Early diagnosis and ongoing monitoring are essential to improving the quality of life for patients. Further studies are needed to assess the impact of therapeutic interventions and genetic correlations within the studied population.
结节性硬化症（TSC）是一种罕见的多系统遗传性疾病，其特征是在包括中枢神经系统、皮肤、肾脏和心脏在内的各个器官中形成良性肿瘤。诊断基于明确的临床标准，如施瓦茨（2007年）制定并于2012年由国际结节性硬化症共识小组更新的标准。该研究旨在调查被诊断为结节性硬化症患者的临床、影像学和分子特征，并探讨特定基因突变（ 基因和 基因）与临床表现严重程度之间的相关性。：这是一项对13例被诊断为结节性硬化症患者的回顾性纵向研究，这些患者是从1984年至2024年比霍尔县急诊临床医院内的比霍尔地区医学遗传学中心（BRCMG）的记录中确定的。评估了临床、影像学和分子特征。患者由包括遗传学家、儿科医生、神经科医生、精神科医生和心理学家在内的多学科团队进行评估。临床和影像学数据是从BRCMG比霍尔的先天性畸形和遗传疾病记录中回顾性收集的，并进行了统计分析。：所有患者均表现出与结节性硬化症诊断一致的临床和影像学体征。83%的患者出现神经学表现，包括癫痫和认知延迟。46%的病例检测到肾脏病变，69%的患者观察到皮肤病变，如面部血管纤维瘤。与 基因中的变异相比，在 基因中鉴定出的突变变异与更严重的临床表现相关，包括严重智力残疾和难治性癫痫发作。：我们的研究虽然涉及的患者数量较少，但突出了结节性硬化症的临床异质性以及多学科方法在患者管理中的重要性。早期诊断和持续监测对于提高患者生活质量至关重要。需要进一步研究以评估治疗干预措施和所研究人群内基因相关性的影响。
