Skrzypczyk Piotr, Wojciechowska Barbara, Szydło Aleksandra, Jóźwiak Sergiusz, Brzewski Michał, Bombiński Przemysław, Jakimów-Kostrzewa Aleksandra, Dziedzic-Jankowska Katarzyna, Antonowicz-Zawiślak Agnieszka, Strzelecka Jolanta, Bieniaś Beata, Pukajło-Marczyk Agnieszka, Pańczyk-Tomaszewska Małgorzata
Medical University of Warsaw: Department of Pediatrics and Nephrology.
Medical University of Warsaw: Student Scientific Group at the Department of Pediatrics and Nephrology.
Pol Merkur Lekarski. 2019 Aug 30;47(278):52-59.
Tuberous sclerosis complex (TSC) is a genetic disease that leads to formation of tumors i.e. in brain kidneys, heart, lungs, and skin.
The aim of the study was to summarize center's experience in the first year of program of nephrologic follow-up in patients with TSC.
During 12 months 30 children with TSC (14 boys and 16 girls aged from 3 months to 17 years 11 months, mean 7.57±5.02 years) were hospitalized. Following parameters were evaluated: genetic and biochemical tests, blood pressure in ambulatory blood pressure monitoring (ABPM), kidney lesions in ultrasonography (30 patients) and in magnetic resonance (14 patients).
Genetic tests were performed in 6 children - in 5 TSC2 mutation was found, in one boy with TSC and numerous renal cysts only PKD1 mutation was revealed. Mean GFR was 130.81±23.23 mL/ min/1.73 m2. Four children (13.3%) had arterial hypertension. Renal lesions were found in 28 (93.3%) children: 18 patients had angiomyolipomas (AML) (mean diameter 15.4±12.5, max 38 mm), 23 patients had renal cysts (mean diameter 7.6±7.0, max 30 mm); 13 patients had AMLs and cysts. A dysplastic lesion (39x26x15 mm) in right kidney was found in one girl. Children with AML were older than remaining patients (10.08±4.55 vs. 4.25±3.50 [years], p<0.001). Children with cysts were characterized by higher systolic (p=0.017), diastolic (p=0.027) and mean (p=0.014) arterial pressure, and mean arterial pressure Z-score (p=0.025) in ABPM. Maximal kidney cyst diameter correlated positively with systolic, diastolic, mean arterial pressure, mean arterial pressure Z-score, and diastolic blood pressure load in ABPM (r = 0.61-0.75, p = 0.033-0.005). Two children with numerous AML with diameter >30 mm were treated with sirolimus.
Because of common focal lesions in kidneys children with TSC should be kept under regular nephrologic follow-up. Presence of large renal cysts may predispose children with TSC to arterial hypertension.
结节性硬化症（TSC）是一种遗传性疾病，可导致肿瘤形成，如在脑、肾、心脏、肺和皮肤中。
本研究的目的是总结该中心在TSC患者肾脏随访项目第一年的经验。
在12个月期间，30例TSC患儿（14例男孩和16例女孩，年龄从3个月至17岁11个月，平均7.57±5.02岁）住院。评估了以下参数：基因和生化检测、动态血压监测（ABPM）中的血压、超声检查（30例患者）和磁共振成像（14例患者）中的肾脏病变。
对6例患儿进行了基因检测，5例发现TSC2突变，1例患有TSC且有大量肾囊肿的男孩仅发现PKD1突变。平均肾小球滤过率（GFR）为130.81±23.23 mL/ min/1.73 m²。4例患儿（13.3%）患有动脉高血压。28例（93.3%）患儿发现肾脏病变：18例患者有肾血管平滑肌脂肪瘤（AML）（平均直径15.4±12.5，最大38 mm），23例患者有肾囊肿（平均直径7.6±7.0，最大30 mm）；13例患者既有AML又有囊肿。在1例女孩的右肾发现一个发育异常病变（39×26×15 mm）。患有AML的患儿比其余患者年龄大（10.08±
