Cupisti Adamasco, Farnesi Ilaria, Armillotta Nicola, Francesca Francesco
Nephrology Division, Internal Medicine Department, University of Pisa, Pisa, Italy.
Clin Nephrol. 2012 Jul;78(1):76-80. doi: 10.5414/cn107046.
This case deals with the first diagnosis of Type B cystinuria with cystine nephrolithiasis in a 72-year-old male. Cystinuria is an inherited disease that consists of congenital abnormalities of renal and intestinal transport of dibasic amino acids. It often leads to frequent recurrent stone formation. Cystine stones most frequently occur in the 1st through 3rd decades of life with a decreased incidence in old age. This case shows that the first diagnosis of cystinuria may be made even in the 8th decade, without any family history, and in a patient with a history of recurrent calcium stone disease. Therefore, the chance of cystinuria must be always considered, even in older calcium stone formers.
该病例为一名72岁男性,首次诊断为伴有胱氨酸肾结石的B型胱氨酸尿症。胱氨酸尿症是一种遗传性疾病,由二元氨基酸在肾脏和肠道转运的先天性异常组成。它常导致频繁复发的结石形成。胱氨酸结石最常发生在1至3个十年的年龄段,老年时发病率降低。该病例表明,即使在八十多岁、无任何家族病史且有复发性钙结石病病史的患者中,也可能首次诊断出胱氨酸尿症。因此,即使在老年钙结石患者中,也必须始终考虑胱氨酸尿症的可能性。