Academic Journal
Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease
| العنوان: | Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease |
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| المؤلفون: | De TOMMASO Adriana Maria Alves, ROSSI Cláudio Lúcio, ESCANHOELA Cecília Amélia Fazzio, SERRA Heliane Guerra, BERTUZZO Carmen Sílvia, HESSEL Gabriel |
| المصدر: | Arquivos de Gastroenterologia, Vol 38, Iss 1, Pp 63-68 (2001) |
| بيانات النشر: | Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE), 2001. |
| سنة النشر: | 2001 |
| المجموعة: | LCC:Diseases of the digestive system. Gastroenterology |
| مصطلحات موضوعية: | Alpha-1-antitrypsin deficiency, Molecular diagnosis, Liver biopsy, Diseases of the digestive system. Gastroenterology, RC799-869 |
| الوصف: | 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 and Methods - 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%). A correct diagnosis is important for effective clinical follow-up and for genetic counseling. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 0004-2803 1678-4219 |
| Relation: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032001000100012; https://doaj.org/toc/0004-2803; https://doaj.org/toc/1678-4219 |
| URL الوصول: | https://doaj.org/article/2879a08563714dcf88b6d53b436020d4 |
| رقم الانضمام: | edsdoj.2879a08563714dcf88b6d53b436020d4 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 00042803 16784219 |
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