Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Background and aim: Congenital anomalies of kidney and urinary tract comprise a wide range of structural malformations that result from defects in the morphogenesis of the kidney and/or the urinary tract. This wide range of renal system structural and functional malformations that account for about 40{u2013}50% of children with chronic kidney disease (CKD), and are the most common cause of end-stage renal disease (ESRD) in children. Some forms of CAKUT are a part of a syndrome associated with extra-renal manifestations hence categorized as syndromic CAKUT. The aim of this study was to clinically characterize infants and children with syndromic CAKUT . Methods: 30 patients with CAKUT were enrolled from Pediatric Neurology and Nephrology Units, Cairo University. Clinical phenotypes, and radiological findings of the patients were analyzed. Results: Renal phenotype; the majority of the patients had non obstructive CAKUT phenotype (83.3%). 10% had obstructive CAKUT phenotype and 6.7% had Mixed obstructive and non-obstructive phenotype. The most frequent CAKUT phenotype was renal dysplasia that accounted for 40% , followed by 26.6 having renal hypoplasia. 13.3% have unilateral renal agenesis (RA). 13.3% have ectopic kidney. 13.3% have Vesico-Ureteric reflux (VUR) and 13.3% have bladder cloaca. 10% have Pelvi-Ureteric junction obstruction (PUJO) and 10% have Hypospadias, 6.6% have renal duplex and 6.6% have neuorogenic baldder. Abstract Extrarenal phenotype; Facial dysmorphysim (40%), Global developmental delay (56.6%), isolalated motor delay (10%), isolated intellectual disability (10%), microcephaly (30%), CNS malformation (10%). CVS congenital anomalies (30%), ophthalmological features (30%), Skeletal (43.3%), urogenital (30%), Neuro-muscular (10%) endocrine (6.7%). Klinefilter syndrome (3.3%) , swallowing dysfunction (3.3%), sensorineural hearing loss (3.3%), dermatological affection (3.3%)

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