Peer-reviewed veterinary case report
Young cat with liver copper buildup and gene variation
By Asada, Hajime et al.·Published in Journal of veterinary internal medicine·2019·Department of Veterinary Internal Medicine, Japan·View original on PubMed →
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Original publication title: Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene.
- Species:
- cat
Plain-English summary
A 9-month-old female crossbred cat was brought to the vet with jaundice (yellowing of the skin and eyes), loss of appetite, and lethargy. Tests showed high levels of copper in her blood and urine, and imaging revealed liver abnormalities. The vet diagnosed her with a genetic disorder affecting copper metabolism, similar to Wilson's disease in humans, and treated her with penicillamine, which helped remove excess copper. After two months, her symptoms improved significantly, and she remained healthy for over nine months following treatment.
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Abstract
A 9-month-old intact crossbred female cat was presented with jaundice, intermittent anorexia and lethargy, increased hepatic enzyme activities, and hyperammonemia. Abdominal ultrasound and computed tomographic examinations determined that the liver had a rounded and irregular margin, and histopathological examination identified excessive accumulation of copper hepatocytes in the liver. Concentrations of both blood and urine copper were higher than in healthy cats. The patient responded well to treatment with penicillamine. Clinicopathological abnormalities and clinical signs improved within 2 months, and the patient was alive for >9 months after starting treatment. Genetic examination determined that the patient and its littermate had a single-nucleotide variation (SNV, p. T1297R) that impaired the function of the ATP7B gene product; the gene that is mutated in patients with Wilson's disease (WD). Hepatic copper accumulation was believed to be associated with the SNV of the ATP7B gene, and the patient had a genetic disorder of copper metabolism equivalent to WD in humans.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/30561139/