Kirsch-Noir F, Thomas J, Fompeydie D, Debré B, Zerbib M, Arvis G
Service d'Uro-Andrologie, Hôpital Tenon, Paris, France.
Prog Urol. 2000 Dec;10(6):1135-44.
Cystine stones is a rare disease, related to a genetic metabolic disease. Its management must treat both the stones and their complications, and prevent recurrences by controlling cystinuria.
The objective of this study was to define the natural history of cystine stones, identify reliable diagnostic criteria and propose a simple treatment regimen.
The authors studied the clinical, biochemical and radiological data of a retrospective series of 116 cases, treated by the same urologist between 1953 and 1999.
Cystinuria is often diagnosed in young adults on the basis of urine biochemistry (Brand's reaction, urinary cystine assay) or spectrophotometric analysis of the stones or urinary crystals. This assessment, not performed routinely, must be guided by a family history, recurrent stones or following failure of lithotripsy. The appearance of the stones, macroscopically a waxy yellow, radiologically only slightly opaque with a large component in the renal pelvis associated with a small round caliceal stones, is highly suggestive. Radiological assessment by IVU is generally sufficient. Treatment of the disease is medical and surgical: dietary measures, alkalinization of the urine and possibly drug treatments, are associated with extracorporeal lithotripsy or surgical treatment. These modalities eliminate cystine stones in 70% of cases. Recurrent stones are observed in 42% of cases followed for more than 5 years, mainly due to the presence of residual fragments (60% of recurrences). Surveillance and dietary measures must be maintained for life. Surveillance is based on biannual radiographic follow-up (plain x-rays +/- ultrasound) to detect and consequently treat small stones. A test for cystinuria must be proposed to all relatives of affected patients.
This disease presents very polymorphic clinical features and clinical course. It can be responsible for impaired renal function and must therefore be investigated in the presence of suggestive clinical signs or history to avoid a delayed diagnosis, as treatment modalities are available to decrease the frequency of recurrence and which can potentiate treatment by surgical or lithotripsy. However, there are no predictive factors of deterioration of the disease, and biannual surveillance, for life, is essential to detect and treat small stones.
胱氨酸结石是一种罕见疾病，与遗传性代谢疾病相关。其治疗必须兼顾结石及其并发症，并通过控制胱氨酸尿症来预防复发。
本研究的目的是明确胱氨酸结石的自然病史，确定可靠的诊断标准，并提出一种简单的治疗方案。
作者研究了1953年至1999年间由同一位泌尿外科医生治疗的116例回顾性病例的临床、生化和放射学数据。
胱氨酸尿症常在年轻成年人中根据尿液生化检查（布兰德反应、尿胱氨酸测定）或结石或尿结晶的分光光度分析进行诊断。这种评估并非常规进行，必须以家族史、复发性结石或体外冲击波碎石失败为指导。结石外观宏观上呈蜡黄色，放射学上仅略有不透光，肾盂中有大量成分，伴有小的圆形肾盏结石，极具提示性。静脉肾盂造影（IVU）的放射学评估通常就足够了。该疾病的治疗包括内科和外科治疗：饮食措施、尿液碱化以及可能的药物治疗，联合体外冲击波碎石或手术治疗。这些方法在70%的病例中可消除胱氨酸结石。在随访超过5年的病例中，42%出现复发性结石，主要原因是存在残留碎片（60%的复发）。必须终身维持监测和饮食措施。监测基于每年两次的放射学随访（腹部平片+/-超声），以检测并治疗小结石。必须对所有受影响患者的亲属进行胱氨酸尿症检测。
这种疾病呈现出非常多样的临床特征和临床病程。它可能导致肾功能受损，因此在出现提示性临床体征或病史时必须进行检查，以避免延迟诊断，因为有治疗方法可降低复发频率，并可增强手术或碎石治疗的效果。然而，目前尚无疾病恶化的预测因素，终身每年两次的监测对于检测和治疗小结石至关重要。
