Robert M, Rakotomalala E, Guiter J, Navratil H
Service d'Urologie I, Hôpital Lapeyronie, CHU de Montpellier, France.
Prog Urol. 1998 Feb;8(1):32-40.
Cystine urinary stones is a relatively rare hereditary disorder of dibasic amino acid transport characterized by frequent recurrences. The management of these stones remains problematical despite the remarkable progress in the urological treatment of upper urinary tract stones. Cystine stones are particularly refractory to extracorporeal shock waves and relatively inaccessible to dye pulsed laser (504 nm). Apart from this exception, endourological techniques often represent the most appropriate therapeutic solution, but they are associated with significant morbidity. The physicochemical characteristics of these stones also allow dissolution by urinary alkalinization or the formation of disulfide compounds. In parallel with oral treatments, which constitute the basis of prevention of recurrence, dissolution can be obtained by direct perfusion of the urinary tract. This approach often requires irrigation for several weeks with a risk of the specific complications of catheterization, especially percutaneous catheterization. Prophylaxis, essentially consisting of dilution and dissolution of urinary cystine, raises the problem of the potential adverse effects of drug treatment. Cystinuria is easily detectable and can be investigated either systematically or only in the families concerned. However, the incidence as well as the frequently benign nature of cystinuria tend to limit its value and its indications.
胱氨酸尿石症是一种相对罕见的二碱基氨基酸转运遗传性疾病,其特点是频繁复发。尽管上尿路结石的泌尿外科治疗取得了显著进展,但这些结石的治疗仍然存在问题。胱氨酸结石对体外冲击波特别难治,对染料脉冲激光(504nm)相对难以触及。除此之外,腔内泌尿外科技术通常是最合适的治疗方法,但它们会带来显著的发病率。这些结石的物理化学特性也允许通过尿液碱化或形成二硫化物化合物来溶解。与构成预防复发基础的口服治疗同时,通过直接灌注尿路可以实现溶解。这种方法通常需要数周的冲洗,存在导管插入术尤其是经皮导管插入术的特定并发症风险。预防主要包括稀释和溶解尿胱氨酸,这引发了药物治疗潜在不良反应的问题。胱氨酸尿症很容易检测到,可以进行系统研究或仅在相关家庭中研究。然而,胱氨酸尿症的发病率以及通常为良性的性质往往限制了其价值和应用指征。