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AAP Grand Rounds 2:55 (1999) Molecular Genetics Used to Predict Renal Damage in Congenital UropathiesSource: Hohenfellner K, Hunley TE, Brezinska R, et al. ACE I/D gene polymorphism predicts renal damage in congenital uropathies. Pediatr Nephrol. 1999;13:514518.
Children with various types of congenital uropathies are known to experience different outcomes despite early diagnosis and aggressive therapy. This study evaluated whether the insertion or deletion (I/D) of a 287 base pair fragment of the human angiotensin converting enzyme (ACE) gene is a risk factor for renal parenchymal damage in 162 Caucasian patients (163 Caucasian controls) with ureteral pelvic junction obstruction (n=49), primary megaureter (n=19), vesicoureteral reflux (n=67), and posterior urethral valves (n=27). This particular I/D modulates circulating and tissue ACE activities that have been linked to progression of cardiovascular and renal diseases. The distribution of the ACE I/D genotype was similar in the
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