1Dipartimento di Scienze Mediche Cliniche e Sperimentali,
Clinica pediatrica, Ospedale Universitario di Udine
2Nefrologia, Dialisi e Trapianto, Dipartimento per la Salute della Donna e del Bambino, AOU di Padova
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Key words: Nephrolithiasis, Cystine stones, Dibasic amino acids transporters mutation, Acute renal failure, Tiopronin
The paper presents the case of a four-month-old infant with a history of crying spells, vomit and renal stones on ultrasounds. Urinary excretion of dibasic amino acids and genetic study confirm a digenic cystinuria. The presented case shows that clinical features of nephrolithiasis in infants could be non-specific and the diagnosis challenging. Chronic renal failure is a possible complication of cystinuria and is positively related to the duration of the disease and treatment delay. Early diagnosis and treatment of cystinuria is essential in children to maintain a normal renal function and reduce the risk of end-stage renal disease in the more aggressive forms.
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