Long‐term follow‐up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation

Brůha, Radan; Marecek, Z; Pospíšilová, Lenka; Nevšímalová, Soňa; Vı́tek, Libor; Martásek, Pavel; Nevoral, Jiří; Petrtýl, J; Urbánek, Petr; Jirásková, Alena; Ferenci, Péter

doi:10.1111/j.1478-3231.2010.02354.x

Cited by 133 publications

(126 citation statements)

References 29 publications

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“…Medici V et al observed that penicillamine treated Wilson's diseases have higher liver iron or higher urinary prohepcidin compared to zinc treated patients (10) Bruha R et al observed that long term follow up of Wilson's diseases showed satisfactory response and survival comparable with general population. (32) In our study 45 out of 50 wilson's diseases children showed satisfactory response to panicillamine and zinc therapy and 5 (10%) patients died of fulminant Wilson's diseases. Ferenci P et al stresses importance on mutation analysis for family screening with a index case with known causative mutation.…”

Section: Discussionmentioning

confidence: 47%

Wilson’s Disease in Children –Experience from a Tertiary Care Centre

Chaudhuri¹

2018

jmscr

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Section: Discussionmentioning

confidence: 47%

Wilson’s Disease in Children –Experience from a Tertiary Care Centre

Chaudhuri¹

2018

jmscr

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“…This can be achieved either by medical therapy or by liver transplantation, when the timeframe for a rescue with medical treatment is not wide enough [18,24,25]. With chelation treatment or liver transplantation, prolonged survival has become the norm [26,27].…”

Section: Treatmentmentioning

confidence: 97%

Evolving Perspectives in Wilson Disease: Diagnosis, Treatment and Monitoring

Weiss

Stremmel

2011

Curr Gastroenterol Rep

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Wilson disease (WD), the autosomal recessively inherited copper overload disorder, remains a diagnostic and therapeutic challenge. In the last decade, direct sequencing of the affected gene ATP7B became commercially available, but interpretation of the results still requires careful attention. Thus, a combination of tests reflecting the disturbed copper metabolism is needed to make the final diagnosis. Because of the low disease frequency, the existing treatment concepts are not based on controlled trails. Here, recent outcome reports of larger cohort studies challenge the recommended therapies and call for individualized treatment strategies. The notion, that certain medical regimens may either be insufficient to upkeep copper homeostasis or may lead to a clinically relevant overtreatment, demand a continuous monitoring of patients even after decades of therapy. In this article, we review current diagnostic and therapeutic approaches in WD.

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“…Zinc therapy (8,11,12), an alternative approach based on limiting gastrointestinal absorption of copper via induction of metallothioneins, small cytosolic proteins that sequester copper, has also been unsuccessful in patients with advanced WD. Liver transplantation for WD, which was first performed by T.E.…”

Section: O M M E N T a R Ymentioning

confidence: 99%

“…More advanced stages of WD, which involve severe liver disease or neurological presentations, have, however, been far more difficult to arrest with D-PA or other subsequently developed copper chelators, such as trientine (TETA) and tetrathiomolybdenate (TTM) (8)(9)(10)(11)(12). Zinc therapy (8,11,12), an alternative approach based on limiting gastrointestinal absorption of copper via induction of metallothioneins, small cytosolic proteins that sequester copper, has also been unsuccessful in patients with advanced WD.…”

Section: Wilson Disease: An Overabundance Of Coppermentioning

confidence: 99%

Microbial peptide de-coppers mitochondria: implications for Wilson disease

Kaler¹

2016

Journal of Clinical Investigation

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C o m m e n t a r y2Walshe's clinical mentor. When Walshe awoke safely in his on-call room the morning after this personal experiment and assessed that "it hadn't killed me," he tested his hypothesis in the patient with WD. A massive increase in urinary copper excretion and clinical improvement were documented in the patient, thereby paving the way for successful treatment of thousands of patients with WD in the decades to follow. Thus, well before the identification of the precise molecular, biochemical, cell biological, and physiological intricacies of WD, copper chelation offered a rational medical treatment (4-7).More advanced stages of WD, which involve severe liver disease or neurological presentations, have, however, been far more difficult to arrest with D-PA or other subsequently developed copper chelators, such as trientine (TETA) and tetrathiomolybdenate (TTM) (8-12). Zinc therapy (8,11,12), an alternative approach based on limiting gastrointestinal absorption of copper via induction of metallothioneins, small cytosolic proteins that sequester copper, has also been unsuccessful in patients with advanced WD. Liver transplantation for WD, which was first performed by T.E. Starzl in Denver in 1975, remains the only curative treatment available for patients in whom the disease has advanced to fulminant hepatic failure (13). While liver transplantation has been successful in the vast majority of WD patients who require it, this procedure carries significant risks, including complications related to surgery and anesthesia and organ rejection or dysfunction, in addition to the potential side effects of a lifelong immunosuppressant drug regimen. Methanotroph-derived copperbinding protein shows promiseIn this issue, Lichtmannegger, Leitzinger, and colleagues tackle the difficult challenge of medical treatment for advanced WD (14). The authors used a reliable rat model of WD to evaluate the efficacy of a bacterial copper-binding peptide, methanobactin (MB), for the treatment of animals at three progressively worse stages of disease. MB is a well-characterized protein produced by the bacterium Methylosinus trichosporium OB3b, which possesses membrane permeability and exceptionally high avidity for copper, the latter via a unique N 2 S 2 -binding site (15). Methane-oxidizing bacteria (methanotrophs), such as M. trichosporium, require large quantities of copper to serve as a cofactor for methane monooxygenase activity; therefore, MB is essential for copper acquisition by these organisms. The severe liver pathology of untreated Wilson disease (WD) is associated with massive copper overload caused by mutations in a liver-specific copper-transporting ATPase, ATP7B. While early, presymptomatic detection and chelation with conventional copper-binding molecules enables effective and life-saving treatment, liver transplantation is the sole option currently available for those with advanced disease. In this issue of the JCI, Lichtmannegger, Leitzinger, and colleagues delineate the therapeutic effect of methanobactin (MB),...

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Long‐term follow‐up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation

Abstract: Long-term follow-up shows a satisfactory response in the great majority of adequately treated patients with WD and survival coincides with that of the general population.

Cited by 133 publications

References 29 publications

Wilson’s Disease in Children –Experience from a Tertiary Care Centre

Wilson’s Disease in Children –Experience from a Tertiary Care Centre

Evolving Perspectives in Wilson Disease: Diagnosis, Treatment and Monitoring

Microbial peptide de-coppers mitochondria: implications for Wilson disease

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