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 an...

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Autores principales:	Elham Zare, Zahra Mahbubi, Maryam Panahi
Formato:	article
Lenguaje:	EN
Publicado:	Codon Publications 2021
Materias:	bone disease; renal tubular acidosis; Wilson’s disease Diseases of the endocrine glands. Clinical endocrinology RC648-665 Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/310503c6473346218ca60c8323c38f5b
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spelling	oai:doaj.org-article:310503c6473346218ca60c8323c38f5b2021-11-11T03:48:30ZA Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria 10.15586/jrenhep.v5i2.1232207-3744https://doaj.org/article/310503c6473346218ca60c8323c38f5b2021-10-01T00:00:00Zhttp://mail.jrenhep.com/index.php/jrenhep/article/view/123https://doaj.org/toc/2207-3744 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. Elham ZareZahra MahbubiMaryam PanahiCodon Publicationsarticlebone disease; renal tubular acidosis; Wilson’s diseaseDiseases of the endocrine glands. Clinical endocrinologyRC648-665Diseases of the genitourinary system. UrologyRC870-923ENJournal of Renal and Hepatic Disorders, Vol 5, Iss 2 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	bone disease; renal tubular acidosis; Wilson’s disease Diseases of the endocrine glands. Clinical endocrinology RC648-665 Diseases of the genitourinary system. Urology RC870-923
spellingShingle	bone disease; renal tubular acidosis; Wilson’s disease Diseases of the endocrine glands. Clinical endocrinology RC648-665 Diseases of the genitourinary system. Urology RC870-923 Elham Zare Zahra Mahbubi Maryam Panahi A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria
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.
format	article
author	Elham Zare Zahra Mahbubi Maryam Panahi
author_facet	Elham Zare Zahra Mahbubi Maryam Panahi
author_sort	Elham Zare
title	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_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_sort	neglected case of wilson’s disease presenting as symptomatic urolithiasis and proteinuria
publisher	Codon Publications
publishDate	2021
url	https://doaj.org/article/310503c6473346218ca60c8323c38f5b
work_keys_str_mv	AT elhamzare aneglectedcaseofwilsonsdiseasepresentingassymptomaticurolithiasisandproteinuria AT zahramahbubi aneglectedcaseofwilsonsdiseasepresentingassymptomaticurolithiasisandproteinuria AT maryampanahi aneglectedcaseofwilsonsdiseasepresentingassymptomaticurolithiasisandproteinuria AT elhamzare neglectedcaseofwilsonsdiseasepresentingassymptomaticurolithiasisandproteinuria AT zahramahbubi neglectedcaseofwilsonsdiseasepresentingassymptomaticurolithiasisandproteinuria AT maryampanahi neglectedcaseofwilsonsdiseasepresentingassymptomaticurolithiasisandproteinuria
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A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria

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