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代谢性骨病预示着威尔逊病的诊断。

Metabolic bone disease heralding the diagnosis of Wilson's disease.

机构信息

Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

BMJ Case Rep. 2023 Jul 25;16(7):e252290. doi: 10.1136/bcr-2022-252290.

Abstract

We report a short-statured, young man in his 20s presenting with bilateral cataract, recurrent kidney stones, history of refractory rickets and bone deformity. He had been consuming calcium and vitamin D supplements and had been operated for cataract and renal stone disease, prior 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 highlights that in case of resistant rickets, a high index of suspicion must be invoked for Wilson's disease. Timely recognition of this entity results in prompt ministrations and prevention of disability.

摘要

我们报告了一位 20 多岁的身材矮小的年轻男性,他患有双侧白内障、复发性肾结石、难治性佝偻病和骨骼畸形病史。他一直在服用钙和维生素 D 补充剂,并已接受白内障和肾结石疾病的手术治疗,但在报告给我们的诊所时,没有任何显著的实验室或临床改善。该患者被诊断为威尔逊病引起的范可尼综合征。该患者强调,在佝偻病难以治疗的情况下,必须高度怀疑威尔逊病。及时识别该病症可及时进行治疗,防止残疾。

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