ACE I/D gene polymorphism predicts renal damage in congenital uropathies

We investigated angiotensin converting enzyme gene (ACE I/D) polymorphism as a risk for progressive renal damage in congenital uropathies. The ACE I/D genotype was determined in 196 Caucasian patients with congenital uropathies and 163 individuals with no clinical or sonographic evidence of any urol...

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Published in:	Pediatric nephrology (Berlin, West) Vol. 13; no. 6; pp. 514 - 518
Main Authors:	HOHENFELLNER, K, HUNLEY, T. E, BREZINSKA, R, BRODHAG, P, SHYR, Y, BRENNER, W, HABERMEHL, P, KON, V
Format:	Journal Article
Language:	English
Published:	Heidelberg Springer 01-08-1999 Springer Nature B.V
Subjects:	Adolescent Biological and medical sciences Child Child Development Congenital diseases Enzymes Female Forecasting Genotype Genotype & phenotype Humans Kidney - diagnostic imaging Kidney diseases Male Medical sciences Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure Odds Ratio Patients Pediatrics Peptidyl-Dipeptidase A - genetics Polymorphism Polymorphism, Genetic - genetics Radiography Renal failure Risk factors Ultrasonic imaging Urinary Tract - abnormalities Urologic Diseases - congenital Urologic Diseases - diagnostic imaging Urologic Diseases - genetics White people United States > US Tennessee Nashville Tennessee Germany Human Kidney disease Urinary system disease Renal function Prognosis Enzyme Genetic determinism Peptidases Gene Peptidyl-dipeptidase A Renal failure Hydrolases Peptidyl-dipeptidases Evolution Child Polymorphism
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Summary:	We investigated angiotensin converting enzyme gene (ACE I/D) polymorphism as a risk for progressive renal damage in congenital uropathies. The ACE I/D genotype was determined in 196 Caucasian patients with congenital uropathies and 163 individuals with no clinical or sonographic evidence of any urological malformations. The study group included patients with ureteropelvic junction obstruction (n=49), primary obstructive megaureter (n=19), primary vesicoureteral reflux (VUR) (n=67), and posterior urethral valves (n=27). Thirty-four patients were excluded because of additional diseases or insufficient follow-up. There was no difference in the ACE I/D distribution between children with uropathies and normal controls (II 16%, ID 56%. DD 28% vs. II 26%, ID 50%, DD 24%). Renal lesions were found in 99 of 162 children by ultrasonography, intravenous pyelography, and nuclear scans. In these children there was significant over-representation of the DD genotype (II 11%, ID 53%, DD 36%) compared with normals (P<0.005, X2=14.9) or with patients with uropathies but no renal lesions (II 23%, ID 62%, DD 15%, P<0.005, X2=14.9). Because ACE I/D has been linked with progressive deterioration of renal function, we evaluated a subset of patients with initially normal kidneys who developed radiographic renal lesions (n=28). Among these patients there was an even greater over-representation of the DD genotype (II 0%, ID 43%, DD 57%, P<0.001, X2=22.6) compared with patients with uropathies but no radiographic lesions. Multivariate analysis revealed that the DD genotype is a risk factor for parenchymal destruction, which was independent of time of diagnosis, surgical intervention, or urinary tract infection. This finding was particularly relevant in patients with VUR who constituted the majority with initially normal kidneys who developed radiographic damage (22/28). Indeed, the odds ratio of developing parenchymal damage with VUR was significantly increased if the individual had the DD genotype (4.2, 95% confidence interval 1.4-13.0). In conclusion the ACE I/D gene polymorphism is a risk factor for renal parenchymal damage in patients with congenital urological abnormalities and appears particularly relevant in children with VUR, where it is an independent predisposing factor.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0931-041X 1432-198X
DOI:	10.1007/s004670050649