Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients.
Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients.
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DOI：
10.1371/journal.pone.0063910
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Katayama I
中科院分区：
文献类型：
--
作者：
Wataya-Kaneda M;Tanaka M;Hamasaki T;Katayama I
多发性硬化症（TSC）是一种常染色体显性遗传疾病，多系统受累，临床表现多样。TSC研究和用于诊断这种疾病的技术开发已经取得了重大进展。因此，患有轻度TSC的个体现在被诊断出来，包括许多没有癫痫发作或认知异常的老年人。我们对日本成人和儿童人群中TSC表现的频率进行了统计分析，并将我们的发现与历史数据进行了比较。卡方检验用于检查各年龄组的每种表现的频率。本研究共纳入了2001年1月至2011年3月期间大坂大学医院皮肤科的166名门诊患者。与既往报告相比，该队列中神经系统表现（自闭症除外）的频率较低，皮肤表现（色素减退斑除外）的频率较高。肺淋巴管平滑肌瘤病和肾脏表现的频率与以前报道的没有显著差异。关于每种表现与年龄的相关性，年轻患者神经系统表现（室管膜下巨细胞星形细胞瘤除外）的频率显著高于老年患者。老年患者的皮肤表现和肾血管平滑肌脂肪瘤的发生率明显高于年轻患者。由于其高频率和可见性，皮肤表现是有用的诊断TSC。此外，子宫血管周围上皮样细胞瘤也是与TSC相关的新发现。
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multi-system involvement and variable manifestations. There has been significant progress in TSC research and the development of technologies used to diagnose this disorder. As a result, individuals with mild TSC are now being diagnosed, including many older adults who have not developed seizures or cognitive abnormalities. We conducted a statistical analysis of the frequency of TSC manifestations in a population of Japanese adults and children, comparing our findings with historical data. The chi-square test was used to examine the frequency of each manifestation by age. A total of 166 outpatients at the Department of Dermatology of Osaka University Hospital during the period from January 2001 to March 2011 were included in the study. Compared to previous reports, the frequency of neurologic manifestations (excepting autism) was lower in this cohort, and the frequency of skin manifestations (excepting hypomelanotic macules) was higher in this cohort. The frequencies of pulmonary lymphangioleiomyomatosis and renal manifestations were not significantly different from those previously reported. Regarding the association of each manifestation with age, the frequency of neurologic manifestations (excepting subependymal giant cell astrocytoma) was significantly higher in younger patients than in older patients. The frequency of skin manifestations and renal angiomyolipoma were significantly higher in older patients than in younger patients. Because of their high frequency and visibility, skin manifestations are useful in the diagnosis of TSC. Moreover, uterine perivascular epithelioid cell tumor was also characterized as a new findings associated with TSC.
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