Variable degree of liver involvement in siblings with PiZZ alpha-1-antitrypsin deficiency-related liver disease.
J Pediatr Gastroenterol Nutr
; 43(1): 136-8, 2006 Jul.
Article
em En
| MEDLINE
| ID: mdl-16819392
ABSTRACT
PiZZ alpha-1-antitrypsin deficiency is the commonest genetic cause of chronic liver disease, but only 10-15% of PiZZ individuals develop liver disease in childhood. Studies have demonstrated varying patterns of disease progression within siblings with the PiZZ phenotype. We retrospectively analysed the case-notes of all patients diagnosed with PiZZ A1ATD between 1978-2002 and compared the pattern of liver disease between affected siblings. We identified 29 families with more than 1 child with the PiZZ phenotype. Twenty-one (72%) PiZZ siblings of the 29 probands had liver disease, which was concordant for severity in 6 (29%), while 8 (28%) had no liver involvement. Five of 7 children requiring liver transplantation had siblings with no persistent liver dysfunction. This study suggests that there is a variable degree of liver involvement in siblings with PiZZ A1ATD-related liver disease and environmental and/or other genetic factors must be involved in determining disease severity.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiência de alfa 1-Antitripsina
/
Irmãos
/
Hepatopatias
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
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Humans
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Male
/
Newborn
Idioma:
En
Revista:
J Pediatr Gastroenterol Nutr
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Reino Unido