Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene.
Wilson's disease
gene mutation
penicillamine
primary copper-associated hepatopathy
Journal
Journal of veterinary internal medicine
ISSN: 1939-1676
Titre abrégé: J Vet Intern Med
Pays: United States
ID NLM: 8708660
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
28
05
2018
accepted:
16
11
2018
pubmed:
19
12
2018
medline:
30
4
2019
entrez:
19
12
2018
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30561139
doi: 10.1111/jvim.15399
pmc: PMC6430902
doi:
Substances chimiques
Chelating Agents
0
Copper
789U1901C5
Copper-Transporting ATPases
EC 7.2.2.8
Penicillamine
GNN1DV99GX
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
874-878Informations de copyright
© 2018 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.
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