[Evaluation of renal lesions in children with tuberous sclerosis - summary of the first year of follow-up program]

Piotr Skrzypczyk; Barbara Wojciechowska; Aleksandra Szydło; Sergiusz Jóźwiak; Michał Brzewski; Przemysław Bombiński; Aleksandra Jakimów-Kostrzewa; Katarzyna Dziedzic-Jankowska; Agnieszka Antonowicz-Zawiślak; Jolanta Strzelecka; Beata Bieniaś; Agnieszka Pukajło-Marczyk; Małgorzata Pańczyk-Tomaszewska

[Evaluation of renal lesions in children with tuberous sclerosis - summary of the first year of follow-up program]

Pol Merkur Lekarski. 2019 Aug 30;47(278):52-59.

[Article in Polish]

Authors

Affiliations

¹ Medical University of Warsaw: Department of Pediatrics and Nephrology.
² Medical University of Warsaw: Student Scientific Group at the Department of Pediatrics and Nephrology.
³ Medical University of Warsaw: Department of Pediatric Neurology.
⁴ Medical University of Warsaw: Department of Pediatric Radiology.
⁵ Department of Pediatric Nephrology, Wrocław Medical Universit.

PMID: 31473752

Abstract

Tuberous sclerosis complex (TSC) is a genetic disease that leads to formation of tumors i.e. in brain kidneys, heart, lungs, and skin.

Aim: 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.

Materials and methods: 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).

Results: 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.

Conclusions: 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.

Keywords: angiomyolipoma; blood pressure; children; renal cyst; tuberous sclerosis complex.

MeSH terms

Adolescent
Angiomyolipoma* / etiology
Blood Pressure Monitoring, Ambulatory
Child
Child, Preschool
Female
Follow-Up Studies
Humans
Infant
Infant, Newborn
Kidney Diseases* / etiology
Male
Tuberous Sclerosis* / complications