Department of Nephrology, UZ Brussel, Laarbeeklaan 101, 1090, Jette, Belgium.
Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
Pediatr Nephrol. 2018 Nov;33(11):2085-2093. doi: 10.1007/s00467-018-4003-6. Epub 2018 Jul 9.
Renal pathology in tuberous sclerosis complex (TSC) is characterized by the growth of angiomyolipoma and renal cysts, and in rare cases renal cell carcinoma. Other consequences of renal involvement in TSC, including hypertension, proteinuria, and hyperfiltration, are not well studied. We aimed to analyze the early manifestations of the renal TSC phenotype in a young TSC cohort and to explore common, modifiable risk factors.
In this retrospective cohort study, TSC patients attending the TSC clinics of two tertiary hospitals were included. Data on demographics, history, genotype, kidney function, hematuria, proteinuria, blood pressure, and renal imaging were collected.
Eighty patients were included, with a median age of 0.8 years (0.0-63.0) at first presentation, and a median follow-up time of 10.2 (0.4-41.0) years. Mutation analysis was available in 64 patients (80%). Renal lesions (cysts or angiomyolipoma) were observed in 55/73 (75%). Thirty-two percent (19/60) were hypertensive, 8/51 (16%) had proteinuria, and 18/71 (25%) had hyperfiltration (median eGFR 154 ml/min/m). Six (7.5%) patients had developed end stage renal disease at the last follow-up. No association was found between hyperfiltration, hypertension, or proteinuria and CKD ≥ 3. Cox regression showed a significant positive association between the presence of a renal intervention and CKD ≥ 3 (Hazard-Ratio 3.91, P < 0.05).
Besides renal cysts and angiomyolipoma, the modifiable progression factors hypertension, proteinuria, and hyperfiltration occur frequently and early in TSC patients. This represents a preventive treatment target.
结节性硬化症（TSC）的肾病理学特征为血管平滑肌脂肪瘤和肾囊肿的生长，在极少数情况下还会发生肾细胞癌。肾 TSC 受累的其他后果，包括高血压、蛋白尿和高滤过，尚未得到充分研究。我们旨在分析年轻 TSC 患者中肾 TSC 表型的早期表现，并探讨常见的、可改变的危险因素。
在这项回顾性队列研究中，纳入了在两家三级医院 TSC 诊所就诊的 TSC 患者。收集了人口统计学、病史、基因型、肾功能、血尿、蛋白尿、血压和肾脏影像学等数据。
共纳入 80 例患者，首次就诊时的中位年龄为 0.8 岁（0.0-63.0 岁），中位随访时间为 10.2 年（0.4-41.0 年）。64 例患者（80%）进行了突变分析。在 73 例患者中有 55 例（75%）观察到肾脏病变（囊肿或血管平滑肌脂肪瘤）。32%（19/60）的患者患有高血压，8%（16%）的患者有蛋白尿，18%（25%）的患者有高滤过（中位 eGFR 为 154ml/min/m）。在最后一次随访时，有 6 名（7.5%）患者发展为终末期肾病。高滤过、高血压或蛋白尿与 CKD≥3 之间未发现相关性。Cox 回归显示，肾干预的存在与 CKD≥3 之间存在显著的正相关（风险比 3.91，P<0.05）。
除了肾囊肿和血管平滑肌脂肪瘤外，可改变的进展因素高血压、蛋白尿和高滤过在 TSC 患者中也经常且早期发生。这代表了一个预防治疗的目标。
