Metabolic bone disease heralding the diagnosis of Wilson's disease

被引:5
作者
Bhadada, Sanjay [1 ]
Malhotra, Bhanu [1 ]
Shetty, Anirudh [1 ]
Mukherjee, Soham [1 ]
机构
[1] Post Grad Inst Med Educ & Res, Endocrinol, Chandigarh, India
关键词
endocrine system; gastrointestinal system; musculoskeletal and joint disorders; renal system; MINERAL DENSITY; OSTEOPOROSIS; ZINC;
D O I
10.1136/bcr-2022-252290
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
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页数:4
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