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.

Un lattante che fa i calcoli

VIDAL, Enrico;Cogo, Paola
2018-01-01

Abstract

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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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11390/1135481
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