Effect of treatment on renal function in severe osteomalacia due to Wilson's disease
Identifieur interne : 000507 ( Main/Exploration ); précédent : 000506; suivant : 000508Effect of treatment on renal function in severe osteomalacia due to Wilson's disease
Auteurs : Pauline MonroSource :
- Journal of Clinical Pathology [ 0021-9746 ] ; 1970.
Abstract
A patient with Wilson's disease presented at the age of 41 with a neurological defect and gross osteomalacia secondary to a defect of renal tubular reabsorption. He also showed the unusual features of a renal stone in the presence of the Fanconi syndrome and a relatively low alkaline phosphatase level, possibly due to the additional inherited defect of hypophosphatasia. During four years of treatment with penicillamine and calciferol clinical improvement was spectacular. Details of amino-acid clearances before and after treatment are given, and the results suggest that, as in the brain and the liver, the function of the distal renal tubules may be restored in Wilson's disease when copper is removed.
Url:
PubMed: 5312232
PubMed Central: 476816
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>A patient with Wilson's disease presented at the age of 41 with a neurological defect and gross osteomalacia secondary to a defect of renal tubular reabsorption. He also showed the unusual features of a renal stone in the presence of the Fanconi syndrome and a relatively low alkaline phosphatase level, possibly due to the additional inherited defect of hypophosphatasia. During four years of treatment with penicillamine and calciferol clinical improvement was spectacular. Details of amino-acid clearances before and after treatment are given, and the results suggest that, as in the brain and the liver, the function of the distal renal tubules may be restored in Wilson's disease when copper is removed.</p>
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