Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease
Arq. gastroenterol
;
38(1): 63-68, Jan.-Mar. 2001. ilus, tab
Article
in English
| LILACS
| ID: lil-290420
RESUMO
BACKGROUND:
Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or cirrhosis. A precise diagnosis of Alpha-1-antitrypsin deficiency may be obtained by biochemical or molecular analysis.OBJECTIVE:
The purpose of this study was to use DNA analysis to examine the presence of an alpha-1-antitrypsin deficiency in 12 children suspected of having this deficiency and who showed laboratory and clinical characteristics of the disease. PATIENTS ANDMETHODS:
Twelve patients, aged 3 months to 19 years, who had serum alpha-1-antitrypsin levels lower than normal and/or had hepatic disease of undefined etiology were studied. The mutant alleles S and Z of the alpha-1-antitrypsin gene were investigated in the 12 children. Alpha-1-antitrypsin gene organization was analyzed by amplification of genoma through the polymerase chain reaction and digestion with the restriction enzymes Xmnl (S allele) and Taq-1 (Z allele).RESULTS:
Seven of the 12 patients had chronic liver disease of undefined etiology and the other five patients had low serum levels of alpha-1-antitrypsin as well as a diagnosis of neonatal cholestasis and/or chronic liver disease of undefined etiology. Five of the 12 patients were homozygous for the Z allele (ZZ) and two had the S allele with another allele (*S) different from Z.CONCLUSION:
These results show that alpha-1-antitrypsin deficiency is relatively frequent in children with chronic hepatic disease of undefined etiology and/or low alpha-1-antitrypsin levels (41.6 per cent). A correct diagnosis is important for effective clinical follow-up and for genetic counseling.
Full text:
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Index:
LILACS (Americas)
Main subject:
DNA
/
Alpha 1-Antitrypsin Deficiency
/
Alleles
/
Liver Diseases
Type of study:
Diagnostic study
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
Language:
English
Journal:
Arq. gastroenterol
Journal subject:
Gastroenterology
Year:
2001
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
State University of Campinas/BR
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