Sidhu Ajaydeep, Mittal Angela, Negroni-Balasquide Xamayta, Constantinescu Alex, Kozakowski Kristin
Mount Sinai Medical Center, Miami Beach, Florida.
Nicklaus Children's Hospital, Miami, Florida; and
Pediatrics. 2016 Dec;138(6). doi: 10.1542/peds.2016-0674. Epub 2016 Nov 15.
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.
胱氨酸尿症和多囊肾病是两种影响泌尿生殖道的遗传性疾病，但很少同时出现。本病例报告介绍了2例被诊断为多囊肾病和胱氨酸尿症且需要手术治疗的儿科患者。两名患者均因结石病急性就诊。影像学检查和结石分析确诊了病情。虽然这两种疾病同时存在的情况很少见，但在评估患有囊性疾病并出现肾结石的患者时，鉴别诊断中应考虑胱氨酸尿症。
