Di Pinto Diana, Balestracci Alejandro, Delgado Norma
Servicio de Nefrología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan.
Arch Argent Pediatr. 2009 Oct;107(5):436-40. doi: 10.1590/S0325-00752009000500011.
Tuberous sclerosis is a neurocutaneous disorder characterized by the growth of hamartomas in multiple organs. Renal involvement is frequent and is the second cause of morbidity and mortality in these patients.
To describe de prevalence, type and long-term outcome of renal involvement in children with tuberous sclerosis.
We retrospectively reviewed clinical notes and renal ultrasounds of 38 children followed between 1989 and 2008 who met diagnostic criteria for tuberous sclerosis.
Median patient age was 10 years and median follow-up was 6.7 years; 44.7% (17 patients, 11 females) showed renal manifestations diagnosed by ultrasound screening in 13, in 2 by palpable mass and in another 2 by hypertension. On initial evaluation, renal ultrasound was abnormal in 7 children (18.4%); during followup another 10 patients (26.3%) developed renal lesions. Renal involvement included: multiple angiomyolipomas in 18.4%, cysts in 18.4% and angiomyolipomas plus cysts in 7.9%. Renal cysts were detected at a median age of 3.1 years and angiomyolipomas at 10.7 years. Two patients have required invasive procedures due to symptomatic large cysts, 5 developed proteinuria and 3 arterial hypertension. None presented renal carcinoma neither evolved to chronic renal failure. CONCLUSIONS. Our findings confirm a high rate of renal involvement in children with tuberous sclerosis, thus we emphasize periodic renal surveillance of these patients in order to diminish the morbidity of this disease.
结节性硬化症是一种神经皮肤疾病，其特征是多个器官出现错构瘤生长。肾脏受累很常见，是这些患者发病和死亡的第二大原因。
描述结节性硬化症患儿肾脏受累的患病率、类型和长期预后。
我们回顾性分析了1989年至2008年间随访的38例符合结节性硬化症诊断标准的儿童的临床记录和肾脏超声检查结果。
患者年龄中位数为10岁，随访中位数为6.7年；44.7%（17例患者，11例女性）表现出肾脏表现，其中13例通过超声筛查诊断，2例通过可触及肿块诊断，另外2例通过高血压诊断。在初始评估时，7例儿童（18.4%）肾脏超声异常；在随访期间，另外10例患者（26.3%）出现肾脏病变。肾脏受累包括：18.4%为多发血管平滑肌脂肪瘤，18.4%为囊肿，7.9%为血管平滑肌脂肪瘤加囊肿。肾囊肿在年龄中位数为3.1岁时被检测到，血管平滑肌脂肪瘤在10.7岁时被检测到。2例患者因有症状的大囊肿需要进行侵入性手术，5例出现蛋白尿，3例出现动脉高血压。无人出现肾癌，也无人发展为慢性肾衰竭。结论。我们的研究结果证实结节性硬化症患儿肾脏受累率很高，因此我们强调对这些患者进行定期肾脏监测，以降低该疾病的发病率。
