Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt

BACKGROUND: Renal cystic disorders (RCD) constitute an important and leading cause of end-stage renal disease (ESRD) in children. It can be acquired or inherited; isolated or associated with extrarenal manifestations. The precise diagnosis represents a difficult clinical challenge. METHODS: The aim of this study was to define the pattern of clinical phenotypes of children with renal cystic diseases in Pediatric Nephrology Center, Cairo University. We have studied the clinical phenotypes of 105 children with RCD [45 (43%) of them had extrarenal manifestations]. RESULTS: The most common disorders were the presumably inherited renal cystic diseases (65.7%) mainly nephronophthisis and related ciliopathies (36.2%), as well as polycystic kidney diseases (29.5%). Moreover, multicystic dysplastic kidneys accounted for 18% of study cases. Interestingly, eight syndromic cases are described, yet unclassified as none had been previously reported in the literature. CONCLUSION: RCD in this study had an expanded and complex spectrum and were largely due to presumably inherited/genetic disorders (65.7%). Moreover, we propose a modified algorithm for clinical and diagnostic approach to patients with RCD.