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Hepatogastroenterology ; 55(81): 1-3, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18507066

RESUMO

BACKGROUND/AIMS: Alagille syndrome, a dominant inherited disorder, is characterized by cholestatic liver disease, associated to interlobular bile duct paucity combined with; cardiac, skeletal, ocular and facial abnormalities. Increased levels of serum lipids are present in more than 80% of probands. Parents and siblings of children with Alagille syndrome are often found to have a mild expression of this probable disease gene; it is not known if dyslipidemia occurs in parents and siblings of children with Alagille syndrome. The aim of the study was to investigate the lipid profile in sibs and parents of children with Alagille syndrome. METHODOLOGY: Four children with Alagille syndrome and 21 first-degree relatives were studied. SETTING: A pediatric referral hospital. PERIOD: July-October 2005. DESIGN: cross-sectional. VARIABLES: Total, low-density, high-density cholesterol and triglyceride. STATISTICS: chi2, Mann-Whitney U and Kruskal-Wallis. RESULTS: Probands had higher levels of total cholesterol, low-density cholesterol and triglycerides than their siblings (p<0.05); however, no differences with their parents were observed (p>0.05). CONCLUSIONS: Dyslipidemia does not seem to be a phenotypic expression in first degree relatives of children with Alagille syndrome. The increased level of serum lipids observed in some of the parents is similar to the expected prevalence of hypercholesterolemia in the adult Mexican population.


Assuntos
Síndrome de Alagille/sangue , Síndrome de Alagille/genética , Dislipidemias/epidemiologia , Adulto , Idoso , Síndrome de Alagille/epidemiologia , LDL-Colesterol/sangue , Estudos Transversais , Feminino , Humanos , Hipercolesterolemia/epidemiologia , Hipercolesterolemia/genética , Masculino , Pessoa de Meia-Idade , Pais , Irmãos
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