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알포트증후군 환자에서 안지오텐신전환효소 유전자 다형성의 의의

Other Titles
 Angiotensin Converting Enzyme Gene Polymorphism in Alport Syndrome 
Authors
 김지홍  ;  이재승  ;  김병길 
Citation
 Journal of the Korean Society of Pediatric Nephrology (대한소아신장학회지), Vol.8(1) : 18-25, 2004 
Journal Title
 Journal of the Korean Society of Pediatric Nephrology (대한소아신장학회지) 
ISSN
 1226-5292 
Issue Date
2004
Keywords
Alport syndrome ; ACE gene polymorphism
Abstract
Purpose : Alport syndrome is clinically characterized by hereditary progressive nephritis causing ESRD with irregular thickening of the GBM and sensory neural hearing loss. The mutations of type IV collagen gene(COL4A5) located on the long arm of X chromosome is considered responsible for most of the structural abnormalities in the GBM of Alport patients. Since no definite clinical prognostic predictor has been reported in the disease yet, we designed this study to evaluate the significance of genetic polymorphism of the angiotensin converting enzyme in children with Alport syndrome as a prognostic factor for disease progression. Methods : ACE I/D genotype were examined by PCR amplification of the genomic DNA in 12 patients with Alport syndrome and 12 of their family members. Alport patients were divided into two groups; the conservative group, those who had preserved renal function for more than 10 years of age, the early CRF group, those who had progressed to CRF within 10 years of age. Results : The mean age of onset was $3.45{\pm}2.4$ years in the conservative group, $4.4{\pm}1.2$ years in the early CRF group. Sex ratios were 5:3 and 2:1 in each group. Among 12 cases of patients, 4 cases were in early CRF group and their mean duration of onset to CRF was 4.5 yews(8.9 years of age). Eight patients(67%) were in the conservative group and they had normal renal function for more than 10 years of age(mean duration of renal preservation was 10.6 years). The incidence of II type ACE gene were in 25.0%(3 cases), ID type in 41.7%(5 cases), DD type in 33.3%(4 cases). There was no significant difference between Alport patient and normal control(II type 44.3%, ID type 40.9%, DD type 14.8%). The incidence of DD type of early CRF group were higher than that of the conservative group(75% vs 12.5%)(p<0.05). There was no difference in ACE gene polymorphism between normal Alport family members and control group. Conclusion : Even though there was no significant difference of ACE polymorphism between Alport patients and the normal control group, the incidence of DD type is significantly increased in early CRF group which means DD type of ACE polymorphism has a possibility of being a predictor for early progression to CRF in Alport patients.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Pyung Kil(김병길)
Kim, Ji Hong(김지홍) ORCID logo https://orcid.org/0000-0001-5352-5423
Lee, Jae Seung(이재승)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/112114
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