A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria
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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Codon Publications
2021-10-01
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| Series: | Journal of Renal and Hepatic Disorders |
| Subjects: | |
| Online Access: | http://mail.jrenhep.com/index.php/jrenhep/article/view/123 |
| _version_ | 1818777318534938624 |
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| author | Elham Zare Zahra Mahbubi Maryam Panahi |
| author_facet | Elham Zare Zahra Mahbubi Maryam Panahi |
| author_sort | Elham Zare |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-18T11:26:55Z |
| format | Article |
| id | doaj.art-310503c6473346218ca60c8323c38f5b |
| institution | Directory Open Access Journal |
| issn | 2207-3744 |
| language | English |
| last_indexed | 2024-12-18T11:26:55Z |
| publishDate | 2021-10-01 |
| publisher | Codon Publications |
| record_format | Article |
| series | Journal of Renal and Hepatic Disorders |
| spelling | doaj.art-310503c6473346218ca60c8323c38f5b2022-12-21T21:09:40ZengCodon PublicationsJournal of Renal and Hepatic Disorders2207-37442021-10-015210.15586/jrenhep.v5i2.123A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and ProteinuriaElham Zare0Zahra Mahbubi1Maryam Panahi2North Khorasan University of Medical Sciences, Bojnurd, IranShahid Beheshti University of Medical Sciences, Tehran, IranTehran University of Medical Sciences, Tehran, IranWe 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.http://mail.jrenhep.com/index.php/jrenhep/article/view/123bone disease; renal tubular acidosis; Wilson’s disease |
| spellingShingle | Elham Zare Zahra Mahbubi Maryam Panahi A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria Journal of Renal and Hepatic Disorders bone disease; renal tubular acidosis; Wilson’s disease |
| title | A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria |
| title_full | A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria |
| title_fullStr | A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria |
| title_full_unstemmed | A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria |
| title_short | A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria |
| title_sort | neglected case of wilson s disease presenting as symptomatic urolithiasis and proteinuria |
| topic | bone disease; renal tubular acidosis; Wilson’s disease |
| url | http://mail.jrenhep.com/index.php/jrenhep/article/view/123 |
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