以症状性尿石症及蛋白尿为表现的威尔逊氏病一例被忽视

E. Zare, Zahra Mahbubi, M. Panahi
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引用次数: 1

摘要

我们报告一位身材矮小的39岁男性,表现为复发性肾结石、难治性佝偻病和骨畸形。在我们的诊所报告之前,他在过去的30年里一直在服用多剂量的钙补充剂和多疗程的维生素D,没有任何明显的实验室或临床改善。患者被诊断为可归因于威尔逊病的范可尼综合征。该患者强调,在耐药佝偻病的情况下,威尔森氏病必须采用高不确定性指数。适当及时地认识到这一实体可以迅速提供服务和预防残疾。我们还从文献中介绍和讨论了威尔逊氏病的综述。
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A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria
We report a short-statured, 39-year-old male presenting with recurrent kidney stones, history of refractory rickets, and bone deformity. He had been consuming multiple doses of calcium supplements and multiple courses of vitamin D over past 30 years beforeprior to reporting in our clinic without any significant laboratory or clinical improvement. The patient was diagnosed as having Fanconi’s syndrome attributable to Wilson’s disease. This patient highlighted that in case of resistant rickets, a high index of uncertainty must be invoked for Wilson’s disease. Appropriate timely recognition of this entity results in prompt ministrations and prevention of disability. We also presented and discussed reviews on Wilson’s disease from literature.
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