title: Case Report: Cystinuria and Polycystic Kidney Disease.
abstract: 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.
authors.affiliation: Mount Sinai Medical Center, Miami Beach, Florida.
authors.forename: Ajaydeep
authors.initials: A
authors.lastname: Sidhu
authors.affiliation: Nicklaus Children's Hospital, Miami, Florida; and agmittal82@gmail.com.
authors.forename: Angela
authors.initials: A
authors.lastname: Mittal
authors.affiliation: Joe DiMaggio Children's Hospital, Hollywood, Florida.
authors.forename: Xamayta
authors.initials: X
authors.lastname: Negroni-Balasquide
authors.affiliation: Joe DiMaggio Children's Hospital, Hollywood, Florida.
authors.forename: Alex
authors.initials: A
authors.lastname: Constantinescu
authors.affiliation: Nicklaus Children's Hospital, Miami, Florida; and.
authors.forename: Kristin
authors.initials: K
authors.lastname: Kozakowski
mesh_terms: D000293:Adolescent; D003555:Cystinuria / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007669:Kidney Calculi / Q000000981:diagnostic imaging / Q000209:etiology* / Q000601:surgery; D008297:Male; D009403:Nephrostomy, Percutaneous / Q000379:methods*; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D018570:Risk Assessment; D012494:Sampling Studies; D012720:Severity of Illness Index; D016896:Treatment Outcome; D018666:Ureteroscopy / Q000379:methods