RENAL ABNORMALITIES Sample Clauses

RENAL ABNORMALITIES. Multiple renal and urinary tract anomalies have been described in KS patients. These include renal dysplasia, horseshoe or ectopic kidney, kidney duplication, ureteropelvic junction obstruction, vesicoureteric reflux, hydronephrosis and duplication of the collecting system (Xxxxxxx et al. 1988, Xxxxxx et al. 1992, Schrander-Stumpel et al. 1994, Xxxxxx 1998, Xxxxxx et al. 1999, Xxxxxxx et al. 2001, XxXxxxxxxx et al. 2001, Armstrong et al. 2005, Xx et al. 2011). Courcet et al reported recently a French cohort of 94 KS patients where renal malformations were present in 22% of cases, and urinary tract abnormalities in 15% (Courcet et al. 2013). In their report, as in previous studies, there were no significant differences in renal or urinary tract anomalies based on mutation type or position. Since the identification of MLL2 as the disease-causing gene, renal anomalies were variably reported as being present in 47% (Xxxxxxxx et al. 2011), 41% (Banka et al. 2012) and 41% (Xx et al. 2011) of MLL2 (+) patients. Overall, two reported cases required renal transplantation (Xxxxx-Xxxxxx et al. 1998, Xxxxx Xxxxx et al. 2006) and a single case died from end stage renal failure aged 5 years (Armstrong et al. 2005).