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2023

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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PAEDIATRIC UROLITHIASIS IN A TERTIARY CENTER

Mafalda Casinhas Santos1,2, Ana Costa e Castro1,3, Rute Baeta Baptista1, Telma Francisco1, Gisela Neto1, Ana Paula Serrão1, Margarida Abranches1

1 - Pediatric Nephrology Unit, Centro Hospitalar Universitário de Lisboa Central, E.P.E.;
2 - Pediatrics Department, Hospital Vila Franca de Xira
3 - Pediatrics Department, Hospital Prof. Dr. Fernando da Fonseca E.P.E

- 2ª Reunião Virtual da Sociedade Portuguesa de Nefrologia Pediátrica, 19/11/2021, Comunicação oral.

Abstract
Introduction: Urolithiasis in children shows an increasing prevalence and is associated with significant morbidity. Metabolic, anatomical, dietary and environmental factors may be implicated in the development of this condition. 
Objectives: Description and review of pediatric urolithiasis cases in a tertiary center.
Methods: Retrospective study including pediatric patients with urolithiasis consecutively followed-up in a pediatric tertiary center between 2016-2020.
Results: 94 pediatric patients with a diagnosis of urolithiasis were followed-up in our center, 53.2% females. The average age at diagnosis was 9 years (1 month-17 years). More than half of patients (53.2%) presented familiar history of urolithiasis. Metabolic abnormalities were found in 58.5% of patients: hypocitraturia in 43.6%, hypercalciuria in 16,0%, hyperoxaluria in 10.6%, hyperuricosuria in 7,4% and cystinuria in 1,1%; in 29,4% of these patients (15/51) more than one abnormality was found. A specific genetic cause was found in 6,4% of patients: distal renal tubular acidosis (n=3), primary hyperoxaluria (n=2), cystinuria (n=1). Urinary tract infection (UTI) was responsible for 18.1% of cases. Nephrocalcinosis associated with urolithiasis was found in 8.5%. Presenting symptoms were abdominal pain (53.2%), UTI (18.1%), hematuria (13.8%), nausea/vomiting (12.8%) and dysuria (10.6%). The diagnosis was incidental in 22.3% of cases. About 17.0% were obese, 13.8 overweight, 4.2% and 5,3% (n=5) had a single functioning kidney. Only 5,3% of patients present a mildly decreased (G2) estimated glomerular filtration rate. Medical treatment was performed in 52.1% of patients and surgical treatment in 27.7%.
Conclusions: Urolithiasis is a relatively frequent diagnosis in a Pediatric Nephrology Center. Familiar history is present in about half of patients and may reflect an underling metabolic abnormality or similar nutritional factors. A significant percentage of metabolic abnormalities was found, reinforcing the need for a complete workup in pediatric patients. The significant percentage of surgical treatments performed is indicative of the potential severity of urolithiasis in pediatric patients.

Keywords: hypercalciuria, hypocitraturia, pediatric urolithiasis