Impact and Prevalence of Renin-angiotensin System Gene Polymorphism of Renal Anomalies in Turner Syndrome.
- Author:
Ji Kyoung PARK
1
;
Young Hee CHUNG
;
Jeong Nyeo LEE
;
Woo Yeong CHUNG
Author Information
1. Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea. chungwv@chollian.net
- Publication Type:Original Article
- Keywords:
Turner syndrome;
Renin-angiotensin system gene polymorphism;
Renal anomaly
- MeSH:
Angiotensins;
Cytogenetic Analysis;
Diagnosis;
DNA;
Gene Frequency;
Genes, ras;
Genotype;
Growth and Development;
Humans;
Karyotype;
Kidney;
Lymphocytes;
Polymerase Chain Reaction;
Prevalence*;
Renin-Angiotensin System*;
Turner Syndrome*;
Ultrasonography;
X Chromosome
- From:Journal of the Korean Society of Pediatric Nephrology
2003;7(1):52-59
- CountryRepublic of Korea
- Language:Korean
-
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(26.7%) 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.
