High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.
Scand J Gastroenterol
; 45(10): 1232-7, 2010 Oct.
Article
em En
| MEDLINE
| ID: mdl-20491539
ABSTRACT
OBJECTIVE:
Although many mutations of the Wilson's disease (WD) gene (ATP7B) have been reported, few data exist regarding the occurrence of fulminant hepatic failure (FHF). We sought to determine if genotypic assignment according to type of protein-product could be related to the prevalence of FHF among patients with WD. MATERIAL ANDMETHODS:
We performed gene analysis in Japanese patients with WD as well as genotype-phenotype analysis in 51 patients. We divided genotypes into two groups according to type of ATP7B product truncated group [T] consisted of two truncated alleles including nonsense, insertion, deletion, or splice site mutation, and missense group [M] consisted of one or two missense alleles. We also divided phenotypes into two groups [FHF] group and [non-FHF] group.RESULTS:
We were able to determine genotype in 42 patients. Genotypically, 11 patients were assigned to [T] group and 31 to [M] group. Phenotypically, 4 patients were [FHF] and 38 were [non-FHF]. All patients in [FHF] group belonged to [T] group. The prevalence of [FHF] in [T] group was 36.4% and was significantly higher than in [M] group (p < 0.003).CONCLUSIONS:
These results demonstrated that genotypes for truncation of ATP7B are associated with high prevalence of FHF.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Falência Hepática Aguda
/
Adenosina Trifosfatases
/
Proteínas de Transporte de Cátions
/
Degeneração Hepatolenticular
/
Mutação
Tipo de estudo:
Prevalence_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article