Open AccessA Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria
Author(s) -
Elham Zare,
Zahra Mahbubi,
Mohammad Hossein Panahi
Publication year - 2021
Publication title -
journal of renal and hepatic disorders
Language(s) - English
Resource type - Journals
ISSN - 2207-3744
DOI - 10.15586/jrenhep.v5i2.123
Subject(s) - medicine , rickets , pediatrics , fanconi syndrome , vitamin d and neurology , disease , proteinuria , kidney disease , vitamin d deficiency , deformity , surgery , kidney
We report a short-statured, 39-year-old male presenting with recurrent kidney stones, history of refractory rickets, and bone deformity. He had been consuming multiple doses of calcium supplements and multiple courses of vitamin D over past 30 years beforeprior 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 highlighted that in case of resistant rickets, a high index of uncertainty must be invoked for Wilson’s disease. Appropriate timely recognition of this entity results in prompt ministrations and prevention of disability. We also presented and discussed reviews on Wilson’s disease from literature.