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Joana Verdelho Andrade1, Sofia Bota2, Telma Francisco2, Raquel Santos2, Margarida Abranches2

1- Pediatrics Department, Centro Hospitalar Tondela-viseu, Portugal
2- Pediatric Nephrology Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal

- ESPN 50th Annual Meeting, Poster – ESPN 50th Annual Meeting, 6-9/9/2017, Glasgow, Scotland (poster)
- Publicação sob a forma de resumo: Pediatr Nephrol (2017) 32: 1779-1780.

Introduction/Aim: To review the data of children with nephrocalcinosis (NC) concerning aetiology, clinical manifestations, growth and renal function at presentation and outcomes of a paediatric population presented to a nephrology unit in an urban tertiary centre.
Material and methods: The records of consecutive children (0–18 years) with NC were reviewed (January 2008–December 2016). Clinical features, aetiology, treatment and outcomes were retrospectively evaluated.
Results: Thirty five cases of NC were identified, 24 of which alone and 11 associated with nephrolithiasis. The group was constituted mostly of girls (54%). Age at presentation (median 5,7 years) was below 2 years of age in 40%, 31% had between 3 and 9 years and 29% were older than 10 years; mean follow-up was 4,4 years (1–9). The most common presenting symptom was failure to thrive in the first year of life (43%) and flank or abdominal pain (20%); in 17% NC was an incidental finding and in 6% of patients had a systemic syndromatic disease. Renal function at diagnosis was normal in all children. The most frequent causes of NC were hereditary tubulopathies (26%), prematurity and diuretic use (20%) and iatrogenic, namely vitamin D treatment (9%) (one case with hipophosphatemic rickets); in 6 cases there was no identifiable cause. In a logistic regression analysis, sex, age of presentation and familiar history of NC showed no correlation with NC alone, NC associated with nephrolithiasis or genetic/metabolic aetiology.
Conclusions: Despite the small sample, in this study, we confirmed that genetic and/or metabolic disorders are the main cause for NC and urolithiasis. Associated symptoms and comorbidities, such as growth retardation, intestinal absorption, or bone demineralization, should be evaluated for diagnostic and therapeutic purposes. Preterm infants are a special risk population with high incidence of NC.

Palavras Chave: metabolic disease, nephrocalcinosis, prematurity, tubulopathies