Urological counseling and followup in pediatric tuberous sclerosis complex.
OBJECTIVE
We review our experience with renal manifestations in pediatric patients with the tuberous sclerosis complex, and offer recommendations for urological counseling, followup and treatment of these patients.


METHODS
We reviewed clinical notes on 41 patients with the tuberous sclerosis complex followed at our institution from childhood. Patient data were gathered in a database focusing on renal involvement. The latter was assessed by periodic clinical evaluations and ultrasound. The risk of renal involvement was evaluated in relation to patient age, genotypic pattern and number of extrarenal manifestations.


RESULTS
Overall, 15 patients (36.6%) had renal involvement. The latter increased with age and was more common in cases with TSC2 genotypic pattern or multiple extrarenal manifestations. Angiomyolipomas were the most common lesions (11 patients), followed by renal cysts (2) and polycystic kidney disease (2). Cystic lesions were the most common in patients younger than 16 years. Renal failure developed in the 2 patients with polycystic kidney disease by the 2nd decade of life. Overall, treatment was required in 2 cases of symptomatic angiomyolipoma. Both patients were female, and had multiple extrarenal manifestations and bilateral renal involvement. One patient underwent open surgery at age 21.3 years and 1 underwent radiological embolization at age 23.4 years.


CONCLUSIONS
Pediatric patients with the tuberous sclerosis complex should undergo urological evaluation and followup. Although most of the lesions remain silent during childhood, the incidence of renal involvement increases with age. The need for treatment is highest in females with multiple extrarenal manifestations and bilateral renal involvement.
Castagnetti
Marco
M
Section of Pediatric Urology, Department of Urology, University Hospital of Padua, Padua, Italy. marcocastagnetti@hotmail.com
Vezzù
Beatrice
B
Laverda
AnnaMaria
A
Zampieri
Sandra
S
Rigamonti
Waifro
W
D017677:Age Distribution; D002648:Child; D002675:Child, Preschool; D003376:Counseling / Q000379:methods*; D019468:Disease Management; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology; D007674:Kidney Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy*; D008279:Magnetic Resonance Imaging; D008297:Male; D011379:Prognosis; D012189:Retrospective Studies; D017678:Sex Distribution; D013997:Time Factors; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy*; D014567:Urography