Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene

J Vet Intern Med. 2019 Mar;33(2):874-878. doi: 10.1111/jvim.15399. Epub 2018 Dec 18.

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.

Keywords: Wilson's disease; gene mutation; penicillamine; primary copper-associated hepatopathy.

Publication types

  • Case Reports

MeSH terms

  • Animals
  • Cat Diseases / drug therapy
  • Cat Diseases / genetics*
  • Cat Diseases / metabolism
  • Cats
  • Chelating Agents / therapeutic use
  • Copper / blood
  • Copper / metabolism*
  • Copper / urine
  • Copper-Transporting ATPases / genetics*
  • Female
  • Hepatolenticular Degeneration / drug therapy
  • Hepatolenticular Degeneration / genetics
  • Hepatolenticular Degeneration / veterinary*
  • Liver / metabolism
  • Mutation
  • Penicillamine / therapeutic use

Substances

  • Chelating Agents
  • Copper
  • Copper-Transporting ATPases
  • Penicillamine