Cystinuria and polycystic kidney disease are 2 genetic disorders that affect the genitourinary tract but rarely together. This case report presents 2 pediatric patients diagnosed with polycystic kidney disease and cystinuria requiring surgical treatment. Both subjects presented acutely with stone disease. Imaging studies and stone analysis established the diagnoses. Although coexistence of these 2 conditions is rare, cystinuria should be considered in the differential diagnosis when evaluating patients with cystic disease who develop renal calculi.
Case Report: Cystinuria and Polycystic Kidney Disease
POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
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Ajaydeep Sidhu, Angela Mittal, Xamayta Negroni-Balasquide, Alex Constantinescu, Kristin Kozakowski; Case Report: Cystinuria and Polycystic Kidney Disease. Pediatrics December 2016; 138 (6): e20160674. 10.1542/peds.2016-0674
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