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Metabolic bone disease heralding the diagnosis of Wilson's disease.
Bhadada, Sanjay; Malhotra, Bhanu; Shetty, Anirudh; Mukherjee, Soham.
Afiliação
  • Bhadada S; Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India bhadadask@rediffmail.com.
  • Malhotra B; Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Shetty A; Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Mukherjee S; Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
BMJ Case Rep ; 16(7)2023 Jul 25.
Article em En | MEDLINE | ID: mdl-37491126
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Raquitismo / Doenças Ósseas Metabólicas / Catarata / Cálculos Renais / Degeneração Hepatolenticular Tipo de estudo: Diagnostic_studies Idioma: En Revista: BMJ Case Rep Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Raquitismo / Doenças Ósseas Metabólicas / Catarata / Cálculos Renais / Degeneração Hepatolenticular Tipo de estudo: Diagnostic_studies Idioma: En Revista: BMJ Case Rep Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia