Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of pediatric chronic kidney disease in Western countries.1,2 They represent a spectrum of malformations, including renal dysplasia, duplex kidney, hydronephrosis, vesicoureteric reflux, obstructive uropathies such as posterior urethral valve and pelviureteric and ureterovesical junction obstruction, and nonobstructive megaureter, among others.2-8 The CAKUT spectrum of malformations may be isolated, syndromic with associated extrarenal malformations, or part of other syndromes such as maturity onset diabetes of the young (MODY) and DiGeorge syndrome.
