Great Ormond Street Institute of Child Health, University College London, London, UK.
Department of Paediatric Nephrology, Great Ormond Street Hospital, London, UK.
Pediatr Nephrol. 2024 Oct;39(10):2927-2937. doi: 10.1007/s00467-024-06417-2. Epub 2024 Jun 4.
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.
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.
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).
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.
结节性硬化症（TSC）相关肾脏疾病是 TSC 成人患者死亡的主要原因。本研究旨在了解儿童 TSC 的特征，特别是肾脏受累情况，为这一特定人群的临床治疗提供信息。
本回顾性队列研究纳入了一家大型儿科肾病中心的所有儿科（<19 岁）TSC 病例。从患者病历中收集相关数据，进行统计学分析以确定变量之间的关联，使用 Kaplan-Meier 曲线估计生存率，并通过对数秩检验评估基因突变之间的生存差异。
共纳入 182 例 TSC 患儿。在 145 例有肾脏影像学数据的患儿中，78.6%（114/145）存在肾脏病变。TSC2 基因突变组的血管平滑肌脂肪瘤（AML）更为常见（p=0.018）。TSC2 基因突变患儿的无病变生存率一般较 TSC1 基因突变患儿差，但 AML 病变的生存率差异具有统计学意义（p=0.030）。最大 AML 尺寸的变化随年龄增长而增加，9 岁以上儿童增加一倍；按基因突变分层时也观察到类似的模式。相反，肾脏囊肿有两个峰值：一个在 5 岁以下儿童（2.31mm/年），另一个在 15-19 岁儿童（2.82mm/年）。12.3%（10/81）的患儿出现慢性肾脏病，超过 3cm 的高危 AML 占 9%（13/145）。
虽然 TSC 肾脏疾病比神经特征出现得晚，但我们的研究结果强调了儿童期进行肾脏监测的重要性，包括常规肾脏影像学、肾功能和血压监测。
