A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria: A Case Report and Review of the Literature

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...

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Bibliographic Details
Published in:Journal of renal and hepatic disorders 2021-10, Vol.5 (2), p.39-44
Main Authors: Zare, Elham, Mahbubi, Zahra, Panahi, Maryam
Format: Article
Language:English
Subjects:
Abdomen
Arthritis
Bones
Creatinine
Dehydrogenases
Endoscopy
Hemoglobin
Hepatitis
Laboratories
Liver
Osteoarthritis
Patients
Potassium
Rickets
Urinalysis
Urine
Vitamin D
Vitamin deficiency
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Summary: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.
ISSN:2207-3744
2207-3744
DOI:10.15586/jrenhep.v5i2.123