Wilson’s disease: Etiology, diagnosis, and treatment

Dalvi, Arif; Padmanaban, Mahesh

doi:10.1016/j.disamonth.2014.07.002

Cited by 14 publications

(10 citation statements)

References 47 publications

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“…It encodes a trans-membrane protein ATPase that transports copper into the trans-Golgi compartment and incorporates it into the plasma protein ceruloplasmin that then facilitates copper excretion [1, 2]. Impairment in ATP7B function results in deposition of copper in many vital organs including the liver and brain.…”

Section: Introductionmentioning

confidence: 99%

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Fourteen Years of Experience of Liver Transplantation for Wilson’s Disease; a Report on 107 Cases from Shiraz, Iran

et al. 2016

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Background and AimLiver transplantation is a potential cure for liver damage from Wilson’s disease but the course of neuropsychiatric manifestations after transplantation remains undetermined.Material and methodsIn this study, data on all patients who’d received a liver transplant for Wilson’s disease at the Shiraz Organ Transplantation Center between December 2000 and March 2014 were reviewed and compared to data on a control group who’d received a liver transplant over the same period but due to other causes.ResultsOut of 2198 patients who’d received a liver transplant in the period; 107 patients were diagnosed with Wilson’s disease (21 with fulminant hepatic failure); age of patient ranged from 5 to 59 years; 56.07% of patients in this series had some type of neuropsychiatric manifestation before transplantation, of which 66.67% showed improvement after the procedure. 18 patients had aggravation of neuropsychiatric symptoms after transplantation. These neuropsychiatric symptoms were mostly for anxiety, tremor and depression but there were four cases of new onset dysarthria, rigidity and ataxia in various combinations. Survival rates of 1-month, 1-year, and 5-years for patients with Wilson’s disease were 88%, 86%, 82%, respectively, evaluations were not statistically different from that of the control group.ConclusionsLiver transplantation showed good long-term results in patients with Wilson’s disease, even in those presenting fulminant hepatic failure. Neuropsychiatric manifestations normally show improvement after transplantation but in some cases new onset of manifestations occurred after successful liver transplantation.

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Section: Introductionmentioning

confidence: 99%

“…The most effective treatment is administration of chelating drugs such as D- penicillamine, tetrathiomolybdate, trientine and zinc salts which block intestinal absorption of copper [2]. …”

Section: Introductionmentioning

confidence: 99%

Fourteen Years of Experience of Liver Transplantation for Wilson’s Disease; a Report on 107 Cases from Shiraz, Iran

et al. 2016

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“…In the final stages of Wilson's disease, oxidative damage, primarily in the liver, is observed. Other symptoms of Wilson's disease include serious neurological issues that can lead to additional psychiatric disorders (210,214,215).…”

Section: Possible Therapeutic Treatment Of Human Ailmentsmentioning

confidence: 99%

“…Currently, treatment consists of one or more of the following options: (i) the use of chelating agents to remove copper via enhanced urine excretion, (ii) implementation of a low-copper diet, and (iii) zinc supplements added to the diet to stimulate production of the copperbinding protein metallothionein (210,214). Of these options, the use of chelating agents is the most commonly prescribed treatment, with two drugs, penicillamine and trientine, currently approved by the U.S. Food and Drug Administration (FDA).…”

Section: Possible Therapeutic Treatment Of Human Ailmentsmentioning

confidence: 99%

Methanobactin and the Link between Copper and Bacterial Methane Oxidation

DiSpirito

Semrau

Murrell

et al. 2016

Microbiol Mol Biol Rev

132

157

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SUMMARYMethanobactins (mbs) are low-molecular-mass (<1,200 Da) copper-binding peptides, or chalkophores, produced by many methane-oxidizing bacteria (methanotrophs). These molecules exhibit similarities to certain iron-binding siderophores but are expressed and secreted in response to copper limitation. Structurally, mbs are characterized by a pair of heterocyclic rings with associated thioamide groups that form the copper coordination site. One of the rings is always an oxazolone and the second ring an oxazolone, an imidazolone, or a pyrazinedione moiety. The mb molecule originates from a peptide precursor that undergoes a series of posttranslational modifications, including (i) ring formation, (ii) cleavage of a leader peptide sequence, and (iii) in some cases, addition of a sulfate group. Functionally, mbs represent the extracellular component of a copper acquisition system. Consistent with this role in copper acquisition, mbs have a high affinity for copper ions. Following binding, mbs rapidly reduce Cu2+to Cu1+. In addition to binding copper, mbs will bind most transition metals and near-transition metals and protect the host methanotroph as well as other bacteria from toxic metals. Several other physiological functions have been assigned to mbs, based primarily on their redox and metal-binding properties. In this review, we examine the current state of knowledge of this novel type of metal-binding peptide. We also explore its potential applications, how mbs may alter the bioavailability of multiple metals, and the many roles mbs may play in the physiology of methanotrophs.

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“…Moreover, the widespread use of trientine is difficult in China due to its high cost and lack of availability. Zinc monotherapy is unable to reduce high copper levels [27,28]. Therefore, the combination of zinc and short-term intravenous DMPS is the best approach for anticopper treatment in patients with hypersplenism and WD before PSE or splenectomy.…”

Section: Journal Of Investigative Surgerymentioning

confidence: 99%

Successful Treatment of Hypersplenism in Wilson's Disease by Partial Splenic Embolization

Chen

Yuan-cheng

et al. 2017

Journal of Investigative Surgery

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Aim: Hypersplenism can occur in patients with Wilson's disease (WD). Surgical splenectomy is a conventional treatment for this condition; however, emotional and neurological deterioration may follow splenectomy. In recent years, partial splenic embolization (PSE) has been increasingly performed as a nonsurgical alternative treatment for hypersplenism. The aim of this study was to evaluate the effectiveness and safety of PSE compared with splenectomy in the treatment of hypersplenism in WD patients. Methods: Fifty WD patients with hypersplenism were randomly divided into two groups (group A and group B), each including 25 patients. Patients in groups A and B were treated with PSE and splenectomy, respectively. Data were collected on the clinical efficacy of each procedure, adverse reactions, hematologic and blood chemistry test results, and abdominal computed tomography (CT) scan findings (group A only). Results: Marked improvements in the platelet and leukocyte counts after PSE and splenectomy were observed in all patients. PSE was associated with improved liver function without severe complications, and no significant changes in emotional and neurological symptoms were observed. In contrast, seven WD patients suffered neurological deterioration after splenectomy. Conclusions: Hypersplenism in WD patients was successfully treated by PSE, which appears to be a safe and effective alternative treatment for WD-induced hypersplenism.

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Wilson’s disease: Etiology, diagnosis, and treatment

Cited by 14 publications

References 47 publications

Fourteen Years of Experience of Liver Transplantation for Wilson’s Disease; a Report on 107 Cases from Shiraz, Iran

Fourteen Years of Experience of Liver Transplantation for Wilson’s Disease; a Report on 107 Cases from Shiraz, Iran

Methanobactin and the Link between Copper and Bacterial Methane Oxidation

Successful Treatment of Hypersplenism in Wilson's Disease by Partial Splenic Embolization

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