Metabolic bone disease heralding the diagnosis of Wilson's disease.
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
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Catarata
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Cálculos Renais
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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