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.
Pediatrics. 2016 Nov 15 [Epub]
Ajaydeep Sidhu, Angela Mittal, Xamayta Negroni-Balasquide, Alex Constantinescu, Kristin Kozakowski
Mount Sinai Medical Center, Miami Beach, Florida., Nicklaus Children's Hospital, Miami, Florida; and ., Joe DiMaggio Children's Hospital, Hollywood, Florida., Nicklaus Children's Hospital, Miami, Florida; and.