OBJECTIVE The hyperfiltration hypothesis implies that children with a solitary functioning kidney are at risk to develop hypertension, proteinuria, and chronic kidney disease. We sought to determine the presenting age of renal injury and identify risk factors for children with a solitary functioning kidney. METHODS We evaluated 407 patients for signs of renal injury, defined as hypertension, ...

IntroductionCongenital anomalies of the kidney and urinary tract (CAKUT) are predominant cause chronic disease (CKD) need for replacement therapy (KRT) in children. Although more than 60 genes known to CAKUT if mutated, a genetic etiology is detected on average only 16% unselected cases, making testing unproductive.MethodsWhole-exome sequencing (WES) was performed 100 patients diagnosed first 1...

and T-MARE regulatory sequences of HNF1β was evidenced. In conclusion, although mutations in RARE and TMARE regulatory sequences of HNF1β may nevertheless be implicated in some renal congenital disorders, we show here that mutations in these sequences are not a frequent cause of CAKUT. More experiments are required to assess the role of the RA-MAFB-HNF1β pathway in kidney development. Moreover,...

T he human metanephros is the direct precursor of the mature kidney: It begins to form in the fifth gestational week, when ureteric bud branches from the mesonephric duct; thereafter, renal mesenchyme condenses around the advancing bud and forms nephrons while the bud itself forms the ureter and collecting ducts. Perturbation of these events underlies the spectrum of disorders called congenital...

Vesicoureteral reflux (VUR) is a common urological anomaly that is found in 1% of children. VUR can cause recurrent febrile urinary tract infection (UTI). The recurrent infections can result in renal scarring, which can lead to renal hypertension and end-stage renal disease. Thus, our therapeutic goal is to prevent febrile UTI in the short term and, in the long term, to preserve renal function ...

Introduction Congenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bilateral renal hypoplasia and other organ malformations. Materials and methods Here, we report on ...

Keywords CAKUT (Congenital Anomalies of the Kidney and Urinary Tract), urinary tract infection, chronic kidney disease, follow-up. Editorial " Structure does not determine Function or vice versa, but both are simply different ways of regarding and describing the same thing. "

BACKGROUND Recently, we identified a microduplication in chromosomal band 1q21.1 encompassing the CHD1L/ALC1 gene encoding a chromatin-remodelling enzyme in congenital anomalies of the kidneys and urinary tract (CAKUT) patient. METHODS To explore the role of CHD1L in CAKUT, we screened 85 CAKUT patients for mutations in the CHD1L gene and performed functional analyses of the three heterozygou...

Congenital anomalies of kidney and urinary tract (CAKUT), including vesico-ureteric reflux (VUR), are major causes of ESRD in childhood. Herein is reported evidence for a locus on 13q33q34 associated with CAKUT. Deletion mapping of chromosome 13q was performed in four children with CAKUT using 31 microsatellite markers on peripheral blood genomic DNA that was obtained from the patients and thei...

The SLIT2 receptor ROBO2 plays a key role in the formation of the ureteric bud, and its inactivation in mice leads to supernumerary ureteric bud development, lack of ureter remodeling, and improper insertion of the ureters into the bladder. Recently, two heterozygous ROBO2 missense mutations were identified in two families with primary vesicoureteral reflux occurring in combination with congeni...