Idiopathic copper toxicosis: is abnormal copper metabolism a primary cause of this disease?

Harada, Masaru; Honma, Yuichi; Yoshizumi, Tomoharu; Kumamoto, Keiichiro; Oe, Shinji; Harada, Noboru; Tanimoto, Aya; Yabuki, Kei; Karasuyama, Tsukasa; Yoneda, Akitoshi; Shibata, Michihiko

doi:10.1007/s00795-019-00227-4

Cited by 10 publications

(6 citation statements)

References 18 publications

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“…Although the candidate gene for ICT has not been identified yet. Harada et al [ 140 ] reported a patient who suffered from progressive hepatic damage, even after chelation therapy and successful removal of copper excess. This phenomenon suggests that, besides copper accumulation, additional unidentified mechanisms involved in developing cholestasis and inflammation are probably present.…”

Section: Wilson-like: Genetic Diseases That Mimic the Wilson Phenotypementioning

confidence: 99%

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

et al. 2021

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Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has a specific treatment, so that early diagnosis is crucial to avoid disease progression and its devastating consequences. The clinical diagnosis is based on the Leipzig score, which considers clinical, histological, biochemical, and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score may harbor other conditions that mimic the WD’s phenotype (Wilson-like). Many patients are diagnosed using current available methods, but others remain in an uncertain area because of bordering ceruloplasmin levels, inconclusive genetic findings and unclear phenotypes. Currently, the available biomarkers for WD are ceruloplasmin and copper in the liver or in 24 h urine, but they are not solid enough. Therefore, the characterization of biomarkers that allow us to anticipate the evolution of the disease and the monitoring of new drugs is essential to improve its diagnosis and prognosis.

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Section: Wilson-like: Genetic Diseases That Mimic the Wilson Phenotypementioning

confidence: 99%

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

et al. 2021

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“…The main hallmarks are different from those of Wilson disease, but nonetheless, patients are often misdiagnosed, based mainly on hepatic disease and high urinary copper excretion. 56 Despite being rare, ICT should be considered as a differential diagnosis in affected children with liver disease of unknown aetiology.…”

Section: Genetic Disorders Which May Mimic Wilson Diseasementioning

confidence: 99%

Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

Espinós

Ferenci

2020

JHEP Reports

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The diagnosis of Wilson disease is not always easy. For many patients, a combination of tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has become part of the routine diagnostic approach. The methods of genetic testing include analysis of the 21 coding exons and intronic flanking sequences, in which exons with recurrent variants would be prioritised depending on the mutation frequency in the local population. If sequencing the entire ATP7B gene cannot identify 2 variants and the suspicion for Wilson disease is high, after reviewing the clinical data, WES (whole-exome sequencing) or WGS (whole-genome sequencing) could be applied. A workflow based on the type and number of ATP7B variants responsible for Wilson disease is proposed. Genetic testing is indicated for confirmation of diagnosis, family screening, and screening of newborns and infants and in unclear cases suspected of suffering from Wilson disease. However, genetic testing is not a routine screening test for Wilson disease. If no additional variants can be identified, it can be assumed that other hereditary disorders may mimic Wilson disease (congenital disorders of glycosylation, MEDNIK syndrome, idiopathic or primary copper toxicoses).

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“…It has also been reported that copper contributes significantly to the reduction of nutrient digestibility, lipid peroxidation, and causing oxidative stress in animals [ 60 ], which is greatly significant for animal welfare and for the quality of animal products [ 61 ]. It is also worth noting the fact that the copper deficiency in the organism may cause metabolic and immune disorders in humans and animals, which was confirmed by Harada et al (2020) [ 62 ]. Zinc is also known as a crucial element of the human health status, being responsible for protein synthesis or cell growth, similar to growth and sex hormones [ 59 ].…”

Section: Monitoring Of Environmental Contamination With Toxic Metalsmentioning

confidence: 84%

Disorders of the Reproductive Health of Cattle as a Response to Exposure to Toxic Metals

Wrzecińska

Kowalczyk

Cwynar

et al. 2021

Biology

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The aim of this review is to comprehensively present disorders of the reproductive system in cattle exposed to contact with toxic metals. Toxic metals are a common environmental pollutant and can come from mines, smelters, fossil fuel combustion, or volcanic eruptions. Metals have the ability to bioaccumulate in living organisms, thus contaminating the food chain and may pose a threat to humans. They accumulate mainly in the liver and kidneys, but also in muscles and fat tissue. Toxic metals such as lead (Pb), arsenic (As), mercury (Hg), and cadmium (Cd) have a negative impact on the fertility of animals; they can lead to abortions, premature calving, or oocyte dysfunction. Moreover, in the male reproductive system, they disrupt spermatogenesis, and cause apoptosis of sperm and oxidative damage. The main source of exposure of livestock to toxic metals is through the consumption of feed or contaminated water. It is important to monitor the level of heavy metals in animal products to prevent human poisoning. Toxic metal biomonitoring can be performed by testing urine, blood, milk, plasma, or hair. Chromium (Cr), arsenic (As), and cadmium (Cd) are excreted in the urine, while lead can be detected by examining the blood of animals, while in milk, arsenic (As), cadmium (Cd), nickel (Ni), and lead (Pb) can be detected. Moreover, toxic metals do not biodegrade in the environment. To purify soil and waters, remediation methods, e.g., biological or chemical, should be used.

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Idiopathic copper toxicosis: is abnormal copper metabolism a primary cause of this disease?

Cited by 10 publications

References 18 publications

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

Disorders of the Reproductive Health of Cattle as a Response to Exposure to Toxic Metals

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