Abstract：
BACKGROUND: Tuberous sclerosis (TSC)-associated kidney disease is a leading cause of mortality in adults with TSC. This study aimed to understand TSC features in children, particularly kidney involvement, to inform clinical care for this specific group.
METHODS: This retrospective cohort study included all paediatric (< 19 years) TSC cases at a large tertiary paediatric nephrology centre. Relevant data were collected from patients\' records, statistical analyses were performed to identify associations between variables, survival probabilities were estimated with Kaplan‒Meier curves, and log-rank tests were conducted to assess survival differences among genetic mutations.
RESULTS: A total of 182 children with TSC were included. Among the 145 children with available kidney imaging data, 78.6% (114/145) exhibited kidney lesions. Angiomyolipomas (AMLs) were significantly more prevalent in the TSC2 mutation group (p = 0.018). Children with TSC2 mutations generally had poorer lesion-free survival than those with TSC1 mutations, but this difference was only significant for AMLs (p = 0.030). The change in size of largest AMLs increased with age and doubled in children above 9 years; a similar pattern was observed when stratified by genetic mutation. In contrast, kidney cysts exhibited two peaks: one in children under 5 years (2.31 mm/year) and the second in children between 15-19 years (2.82 mm/year). Chronic kidney disease was observed in 12.3% (10/81) of children, and high-risk AMLs above 3 cm were observed in 9% (13/145).
CONCLUSIONS: While TSC kidney disease emerges later in the disease course than neurological features, our findings emphasise the importance of kidney surveillance during childhood, including routine kidney imaging, kidney function, and blood pressure monitoring.
METHODS: This retrospective cohort study included all paediatric (< 19 years) TSC cases at a large tertiary paediatric nephrology centre. Relevant data were collected from patients\' records, statistical analyses were performed to identify associations between variables, survival probabilities were estimated with Kaplan‒Meier curves, and log-rank tests were conducted to assess survival differences among genetic mutations.
RESULTS: A total of 182 children with TSC were included. Among the 145 children with available kidney imaging data, 78.6% (114/145) exhibited kidney lesions. Angiomyolipomas (AMLs) were significantly more prevalent in the TSC2 mutation group (p = 0.018). Children with TSC2 mutations generally had poorer lesion-free survival than those with TSC1 mutations, but this difference was only significant for AMLs (p = 0.030). The change in size of largest AMLs increased with age and doubled in children above 9 years; a similar pattern was observed when stratified by genetic mutation. In contrast, kidney cysts exhibited two peaks: one in children under 5 years (2.31 mm/year) and the second in children between 15-19 years (2.82 mm/year). Chronic kidney disease was observed in 12.3% (10/81) of children, and high-risk AMLs above 3 cm were observed in 9% (13/145).
CONCLUSIONS: While TSC kidney disease emerges later in the disease course than neurological features, our findings emphasise the importance of kidney surveillance during childhood, including routine kidney imaging, kidney function, and blood pressure monitoring.
摘要：
背景：结节性硬化症（TSC）相关的肾脏疾病是成人TSC死亡的主要原因。本研究旨在了解儿童的TSC特征，尤其是肾脏受累，告知这一特定群体的临床护理。
方法：这项回顾性队列研究纳入了一个大型三级儿科肾脏病中心的所有儿科（<19岁）TSC病例。相关数据从患者记录中收集，进行统计分析以确定变量之间的关联，生存概率用Kaplan-Meier曲线估计，和对数秩检验用于评估基因突变之间的生存差异.
结果：共纳入182名TSC患儿。在有肾脏影像学资料的145名儿童中，78.6%(114/145)出现肾脏病变。血管平滑肌脂肪瘤（AMLs）在TSC2突变组中更为普遍（p=0.018）。TSC2突变的儿童通常比TSC1突变的儿童无病变生存率差。但这种差异仅对AMLs有统计学意义(p=0.030)。最大AML的大小变化随年龄增长而增加，在9岁以上的儿童中增加了一倍；当通过基因突变分层时，观察到类似的模式。相比之下,肾囊肿表现出两个峰值：一个在5岁以下的儿童中（2.31毫米/年），第二个在15-19岁的儿童中（2.82毫米/年）。12.3%（10/81）的儿童出现慢性肾脏病，9％（13/145）观察到3cm以上的高风险AMLs。
结论：虽然TSC肾病在病程中出现得比神经系统特征晚，我们的研究结果强调了儿童肾脏监测的重要性，包括常规肾脏成像,肾功能,和血压监测。
方法：这项回顾性队列研究纳入了一个大型三级儿科肾脏病中心的所有儿科（<19岁）TSC病例。相关数据从患者记录中收集，进行统计分析以确定变量之间的关联，生存概率用Kaplan-Meier曲线估计，和对数秩检验用于评估基因突变之间的生存差异.
结果：共纳入182名TSC患儿。在有肾脏影像学资料的145名儿童中，78.6%(114/145)出现肾脏病变。血管平滑肌脂肪瘤（AMLs）在TSC2突变组中更为普遍（p=0.018）。TSC2突变的儿童通常比TSC1突变的儿童无病变生存率差。但这种差异仅对AMLs有统计学意义(p=0.030)。最大AML的大小变化随年龄增长而增加，在9岁以上的儿童中增加了一倍；当通过基因突变分层时，观察到类似的模式。相比之下,肾囊肿表现出两个峰值：一个在5岁以下的儿童中（2.31毫米/年），第二个在15-19岁的儿童中（2.82毫米/年）。12.3%（10/81）的儿童出现慢性肾脏病，9％（13/145）观察到3cm以上的高风险AMLs。
结论：虽然TSC肾病在病程中出现得比神经系统特征晚，我们的研究结果强调了儿童肾脏监测的重要性，包括常规肾脏成像,肾功能,和血压监测。
