Explore the vast range of titles available.

Publisher's Note: Products purchased from 3rd Party sellers are not guaranteed by the Publisher for quality, authenticity, or access to any online entitlements included with the product.Now in full color for the first time, the third edition of the Handbook of Pediatric Urology helps you better understand the diagnosis and treatment of all major urologic disorders and conditions in infants, children, and adolescents. A new third editor, Dr. Jeffery A. Stock-Director of Pediatric Urology at Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai in New York-and over 25 contributors provide thorough, concise coverage of the entire field, making this quick-reference ideal for bedside use as well as deep-dive research.

Background We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT). Methods The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%). A random forest model was constructed to predict HNF1B mutations. The recursive feature elimination algorithm was used for feature selection for the model, and receiver operating characteristic curve statistics was used to verify its predictive effect. Results A total of 213 patients were analyzed, including HNF1B -positive (mut + , n  = 109) and HNF1B -negative (mut − , n  = 104) subjects. The majority of patients had mild chronic kidney disease. Kidney phenotype was similar between groups, but bilateral kidney anomalies were more frequent in the mut + group. Hypomagnesemia and hypermagnesuria were the most common abnormalities in mut + patients and were highly selective of HNF1B . Hypomagnesemia based on age-appropriate norms had a better discriminatory value than the age-independent cutoff of 0.7 mmol/l. Pancreatic anomalies were almost exclusively found in mut + patients. No subjects had hypokalemia; the mean serum potassium level was lower in the HNF1B cohort. The abovementioned, discriminative parameters were selected for the model, which showed a good performance (area under the curve: 0.85; sensitivity of 93.67%, specificity of 73.57%). A corresponding calculator was developed for use and validation. Conclusions This study developed a simple tool for predicting HNF1B mutations in children and young adults with CAKUT. Graphical abstract A higher resolution version of the Graphical abstract is available as Supplementary information

We present the findings of a prospective cohort study of babies born with antenatally detected urinary tract abnormalities (AUTAs) between 1999–2003 and compare the outcomes with those of an earlier cohort born between 1989 and 1993. All infants with a fetal anteroposterior renal pelvic diameter (APRPD) ≥7 mm in the third trimester or other urinary tract abnormality underwent a detailed postnatal ultrasound scan and other investigations as indicated. The incidence of AUTAs was significantly greater in the more recent cohort (7.6/1000 vs. 3/1000 live births; p  < 0.05). Of the 350 infants on which we had data, 48.6% (170/350) were in the non-specific dilatation (NSD) category, and vesicoureteric reflux (VUR) was detected in 12%. Restricting investigations to those who had an APRPD ≥10 mm at >30 weeks of gestation could have reduced the number with NSD in the more recent cohort (26/115; 25%), but 25% of those with pelviureteric junction hold-up and 50% with VUR would have been missed. Significantly fewer patients in the more recent cohort underwent surgery (7 vs. 21%; p  < 0.001). There is a trend towards larger APRPDs on third trimester scans being associated with more significant pathology, but there is a lot of clinical overlap. The study highlights the need for cautious antenatal counselling combined with an assurance to prospective parents that postnatal investigations will be performed in a stepwise manner based on the initial postnatal ultrasound scan and clinical findings.

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of malformation at birth and represent the cause of 40–50% of pediatric and 7% of adult end-stage renal disease worldwide. The pathogenesis of CAKUT is based on the disturbance of normal nephrogenesis, secondary to environmental and genetic causes. Often CAKUT is the first clinical manifestation of a complex systemic disease, so an early molecular diagnosis can help the physician identify other subtle clinical manifestations, significantly affecting the management and prognosis of patients. The number of sporadic CAKUT cases explained by highly penetrant mutations in a single gene may have been overestimated over the years and a genetic diagnosis is missed in most cases, hence the importance of identifying new genetic approaches which can help unraveling the vast majority of unexplained CAKUT cases. The aim of our review is to clarify the current state of play and the future perspectives of the genetic bases of CAKUT.

The aim of this study was to determine the proportion of children who develop urinary tract infection (UTI) after kidney transplantation (KTx) and to identify the factors associated with UTI and its impact on graft function. To this end, we undertook a chart review of children who underwent KTx at Red Cross Children’s Hospital between January 2003 and December 2009 and were followed-up for at least 6 months after transplantation. Sixty-two children (53.2% males) were followed-up for a mean (standard deviation) period of 36.9 (19.7) months. Mean age at transplantation was 10.0 (4.6) years. Twenty-five (40.3%) children had 89 UTI episodes during the study period, equivalent to 0.94 UTI episodes per one patient-year of follow-up. Acute pyelonephritis occurred in 17 (27.4%) children; another 17 (27.4%) had multiple post-KTx UTI. Klebsiella (40.0%) and Escherichia (28.0%) were the commonest organisms. Those with post-KTx UTI were, at transplantation, younger (8.3 vs. 11.2 years; p  = 0.017), had lower urinary tract abnormality (LUTA) (13 vs. 1; p  = 0.000) and had pre-KTx UTI (13 vs. 5; p  = 0.001). Multivariate analysis revealed that only age <5 years at transplantation and LUTA remained significant and that UTI KTx was not associated with worsening graft function. UTI is common after post-KTx. Among our patient cohort, younger age and LUTA were risk factors, but UTI did not affect graft function.

During the past decades, remarkable progress has been made in our understanding of the molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing genetic changes. Congenital anomalies of the kidney and urinary tract (CAKUT) are remarkably diverse, and may be either isolated to the kidney or involve other systems, and are notorious in their variable genotype–phenotype correlations. Genetic conditions underlying CAKUT are individually rare, but collectively contribute to disease etiology in ~ 16% of children with CAKUT. In this review, we will discuss basic concepts of kidney development and genetics, common causes of monogenic CAKUT, and the approach to diagnosing and managing a patient with suspected monogenic CAKUT. Altogether, the concepts presented herein represent an introduction to the emergence of nephrogenetics, a fast-growing multi-disciplinary field that is focused on deciphering the causes and manifestations of genetic kidney diseases as well as providing the framework for managing patients with genetic forms of CAKUT.

Congenital anomalies of the kidney and urinary tract (CAKUT) result from disruptions in normal kidney and urinary tract development during fetal life and collectively represent the most common cause of kidney failure in children worldwide. The antenatal determinants of CAKUT are diverse and include mutations in genes responsible for normal nephrogenesis, alterations in maternal and fetal environments, and obstruction within the normal developing urinary tract. The resultant clinical phenotypes are complex and depend on the timing of the insult, the penetrance of underlying gene mutations, and the severity and timing of obstruction related to the sequence of normal kidney development. Consequently, there is a broad spectrum of outcomes for children born with CAKUT. In this review, we explore the most common forms of CAKUT and those most likely to develop long-term complications of their associated kidney malformations. We discuss the relevant outcomes for the different forms of CAKUT and what is known about clinical characteristics across the CAKUT spectrum that are risk factors of long-term kidney injury and disease progression.

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome. Genome-wide analysis of copy number variants in 2,824 cases across the phenotypic spectrum of CAKUT sheds light on the genomic architecture of disease and identifies TBX6 as a driver for CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

This study showed that a history of clinically evident kidney disease in childhood was associated with an increased risk of end-stage renal disease in adulthood, even if renal function was apparently normal in adolescence.

The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) encompasses a common birth defect in humans that has significant impact on long-term patient survival. Overall, data indicate that approximately 20% of patients may have a genetic disorder that is usually not detected based on standard clinical evaluation, implicating many different mutational mechanisms and pathogenic pathways. In particular, 10% to 15% of CAKUT patients harbor an unsuspected genomic disorder that increases risk of neurocognitive impairment and whose early recognition can impact clinical care. The emergence of high-throughput genomic technologies is expected to provide insight into the common and rare genetic determinants of diseases and offer opportunities for early diagnosis with genetic testing.