scholarly journals A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria

2021 ◽  
Vol 5 (2) ◽  
pp. 39-44
Author(s):  
Elham Zare ◽  
Zahra Mahbubi ◽  
Maryam Panahi
Keyword(s):  
Vitamin D ◽  
Clinical Improvement ◽  
Kidney Stones ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Bone Deformity ◽  
Calcium Supplements ◽  
History Of ◽  
Prevention Of Disability ◽  
Resistant Rickets

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.

Metabolism of 25-hydroxyvitamin D in copper-laden rat: a model of Wilson's disease

1988 ◽  
Vol 254 (2) ◽  
pp. E150-E154
Author(s):  
T. O. Carpenter ◽  
M. L. Pendrak ◽  
C. S. Anast
Keyword(s):  
Vitamin D ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Vitamin D Metabolism ◽  
Hydroxyvitamin D ◽  
Dihydroxyvitamin D ◽  
Hepatic Copper ◽  
25 Hydroxyvitamin D ◽  
Potential Factor

Wilson's disease results in excess tissue accumulation of copper and is often complicated by skeletal and mineral abnormalities. We investigated vitamin D metabolism in rats fed a copper-laden diet rendering hepatic copper content comparable with that found in Wilson's disease. Injection of 25-hydroxyvitamin D3 [25(OH)D3] resulted in reduced 1,25-dihydroxyvitamin D [1,25(OH)2D] levels in copper-intoxicated rats. In vitro 25(OH)D-1 alpha-hydroxylase activity was impaired in renal mitochondria from copper-intoxicated animals. Activity was also inhibited in mitochondria from controls when copper was added to incubation media. Impaired conversion of 25(OH)D to 1,25(OH)2D occurs in copper intoxication and suggests that altered vitamin D metabolism is a potential factor in the development of bone and mineral abnormalities in Wilson's disease.

scholarly journals Resolved Psychosis after Liver Transplantation in a Patient with Wilson’s Disease

2011 ◽  
Vol 7 (1) ◽  
pp. 182-184 ◽  
Author(s):  
Orazio Sorbello ◽  
Daniela Riccio ◽  
Margherita Sini ◽  
Mauro Carta ◽  
Luigi Demelia
Keyword(s):  
Liver Transplantation ◽  
Liver Function ◽  
Wilson’S Disease ◽  
Psychiatric Symptoms ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Hepatic Disease ◽  
Behavioral Symptoms ◽  
Psychiatric Disease ◽  
History Of

A psychiatric involvement is frequently present in Wilson’s disease. Psychiatric symptoms are sometimes the first and only manifestation of Wilson’s disease. More often a psychiatric involvement is present beside a neurologic or hepatic disease. We describe the case of a 18 years-old male patient who shows a clinic and laboratoristic pattern of cirrhosis and an history of subchronic hallucinatory psychosis, behavioral symptoms and mood disturbances with depressed mood. He hadn’t familiar history of liver or psychiatric disease. Laboratory and imaging tests confirmed the diagnosis of Wilson’s disease with psichiatric involvement. After liver transplantation copper metabolism and liver function normalised and we noticed no recurrency of the psichiatric illness. Very few cases of psychiatric improvement after orthotopic liver transplantation (OLT) has been described until now.

NATURAL HISTORY OF WILSON'S DISEASE

The Lancet ◽  
1967 ◽  
Vol 290 (7517) ◽  
pp. 672 ◽  
Author(s):  
J.M. Walshe
Keyword(s):  
Natural History ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
History Of

History of Wilson's disease: 1912 to 2000

2006 ◽  
Vol 21 (2) ◽  
pp. 142-147 ◽  
Author(s):  
John M. Walshe
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
History Of

scholarly journals Successful Photorefractive Keratectomy in a Case of Wilson’s Disease

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Saeed Shokoohi-Rad ◽  
Hamid-Reza Heidarzadeh
Keyword(s):  
Refractive Surgery ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Photorefractive Keratectomy ◽  
Case Presentation ◽  
Corrected Visual Acuity ◽  
History Of ◽  
F Ring ◽  
The Right ◽  
Best Corrected Visual Acuity

Purpose. To report a female with a history of Wilson’s disease who underwent a successful photorefractive keratectomy (PRK) for myopic correction. Case Presentation. A twenty-year-old female with a history of Wilson’s disease and D-penicillamine use was referred to our clinic for myopic refractive surgery. Her best-corrected visual acuity (BCVA) was 20/20 for both eyes with a refraction of ‐ 1.25 ‐ 0.5 ∗ 75 ° and ‐ 1.25 ‐ 0.25 ∗ 55 ° for the right and left eyes. The slit examination showed a prominent Kayser-Fleischer ring (K-F ring) in both eyes. She underwent a successful myopic PRK surgery, and her BCVA became 20/20 with no significant refraction. Conclusions. In this report, we report a successful PRK surgery for myopic correction in a case of Wilson’s disease with prominent K-F rings in both eyes.

Clinical improvement of a patient with severe Wilson's disease after a single session of therapeutic plasma exchange

2009 ◽  
Vol 24 (1) ◽  
pp. 25-27 ◽  
Author(s):  
Mehmet Hursitoglu ◽  
Osman Kara ◽  
Mehmet A. Cikrikcioglu ◽  
Tahsin Celepkulu ◽  
Sengul Aydin ◽  
...  
Keyword(s):  
Plasma Exchange ◽  
Clinical Improvement ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Therapeutic Plasma Exchange ◽  
Single Session
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