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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