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Journal of the Korean Society of Pediatric Nephrology 2003;7(1): 52-59.
터너 증후군에서 신기형의 발생에 미치는 레닌-안지오텐신계 유전자 다형성의 영향
박지경, 정영희, 이정녀, 정우영
1인제대학교 의과대학 부산백병원 소아과
2인제대학교 의과대학 부산백병원 소아과
3인제대학교 의과대학 부산백병원 진단검사의학과
4인제대학교 의과대학 부산백병원 소아과
Impact and Prevalence of Renin-angiotensin System Gene Polymorphism of Renal Anomalies in Turner Syndrome
Ji-Kyoung Park, Young-Hee Chung, Jeong-Nyeo Lee, Woo-Yeong Chung
1Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital
2Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital
3Department of Laboratory Medicine, Inje University College of Medicine, Busan Paik Hospital
4Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital
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ABSTRACT
Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C.
Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples.
Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome.
Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.
Key words: Turner syndrome | Renin-angiotensin system gene polymorphism | Renal anomaly
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Angiotensin Converting Enzyme Gene Polymorphism in Alport Syndrome  2004 April;8(1)
The Prevalence of Renal Malformation in Turner Syndrome in Korea  1997 October;1(2)
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