ESPU Congress 2018 - Abstract Book

180 29 th CONGRESS OF THE ESPU 12:01–12:04 S24-4 (PP) THE ROLE OF METABOLIC EVALUATION IN PEDIATRIC PATIENTS WITH UROLITHIASIS Alfredo BERRETTINI  1 , Francesca TARONI  2 , Mirella MOGIATTI  1 , Giuseppina MARRA  2 , Dario Guido MINOLI  1 , Erika Adalgisa DE MARCO  1 , Giovanni MONTINI  2 and Gianantonio MANZONI  1 1) Ospedale Maggiore Policlinico, Fondazione Cà Granda, Pediatric Urology Unit, Milan, ITALY - 2) Ospedale Maggiore Policlinico, Fondazione Cà Granda, Pediatric Nephrology, Dialysis and Transplant Unit, Depart of Clinical Sciences and Community Health, Milan, ITALY PURPOSE Urolithiasis is a rare and underestimated condition and its incidencehas increased in the last few decades. In pediatric age, more often than in adults, it can be linked to pathologies that could determine irreversible damage of renal function. Moreover, sometimes urolithiasis may be the first manifestation of major metabolic and genetic diseases. Thus, It is important to diagnose the precise pathology and to define specific medical and surgical treatment. MATERIAL AND METHODS Data from patients regularly followed up in our clinic from 2007–2017 for urolithiasis were retrospec- tively reviewed to assess the prevalence of rare diseases and to evaluate possible associated risk factors. We included only those patients (142 out of 190) who completed the metabolic evaluation: renal function, acid-base balance, PTH, vitamin D, urinary electrolytes, oxaluria, urinary cystine, citrate and uric acid. All patients underwent an abdominal US and X-ray. RESULTS Nephrolithiasis was secondary to a rare disease in 29 patients (20 %) (Table 1). The most common clinical presentation was flank/abdominal pain in 60 patients (42 %). In children with rare diseases the only risk factors that appeared statistically significant (p< 0.05) were the age < 4 years old (p:0.000003), male sex (p:0.026834), nephrocalcinosis (p:0.000033), stone >1 cm (p < 0.05) and bilateral stones (p:0.00001) (Table 2). CONCLUSIONS 20 % of patients with urolithiasis had an associated rare disease. In the presence of risk factors extended investigations are mandatory in order to exclude a potential rare disease. Rare Disease N. 29 Cystinuria 21 APRT Deficiency 2 Hypersensivity to Vitamin D 2 Xantinuria 1 Lesh Nhyan 1 Dend Syndrome 1 Oxalosis 1