Congenital Urinary Anomalies Research Articles

Management of ureteropelvic junction obstruction associated with congenital upper urinary tract anomalies in children: Single-center experience

Purpose We report our experience in the management of ureteropelvic junction obstruction in children with congenital upper urinary tract anomalies.Materials and methods A retrospective review was performed for all children with primary ureteropelvic junction obstruction associated with upper urinary tract anomalies between 1999 and 2011 at our hospital. Medical records were reviewed for patient age, sex, type of urinary tract anomalies, affected side, indication of surgery, and operative details. Clinical and radiological outcomes were assessed. Success was defined as both symptomatic relief and radiographic resolution of obstruction at final follow-up.Results There were 12 children (10 boys and two girls) with mean age of 5.3 years (range 1–13 years). Anomalies included ectopic pelvic kidney in six patients, crossed fused ectopia in two, a horseshoe kidney in two, and duplex renal units in two. The left kidney was affected in seven and the right kidney in five children. All patients were managed by open dismembered pyeloplasty. No significant perioperative complications were encountered in the study group. The mean follow-up was 30 months (range 15–45 months). Overall success rate was 84%. Relief of obstruction was evident in 10 patients as documented by intravenous urography or diuretic renography. Secondary nephrectomy was necessitated in two patients; one had severely impaired ipsilateral renal function and the other had recurrent pyelonephritis without radiological improvement.Conclusion Despite the anomalous renal anatomy and the challenging surgical exposure, dismembered pyeloplasty in children with upper urinary tract anomalies has a high success rate with excellent functional results.Keywords: crossed ectopic, horseshoe kidney, obstruction, pyeloplasty, ureter

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

BackgroundThe DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown.MethodsWe conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice.ResultsWe identified heterozygous deletions of 22q11.2 in 1.1% of the patients with congenital kidney anomalies and in 0.01% of population controls (odds ratio, 81.5; P=4.5×10−14). We localized the main drivers of renal disease in the DiGeorge syndrome to a 370-kb region containing nine genes. In zebrafish embryos, an induced loss of function in snap29, aifm3, and crkl resulted in renal defects; the loss of crkl alone was sufficient to induce defects. Five of 586 patients with congenital urinary anomalies had newly identified, heterozygous protein-altering variants, including a premature termination codon, in CRKL. The inactivation of Crkl in the mouse model induced developmental defects similar to those observed in patients with congenital urinary anomalies.ConclusionsWe identified a recurrent 370-kb deletion at the 22q11.2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies. Of the nine genes at this locus, SNAP29, AIFM3, and CRKL appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic driver. (Funded by the National Institutes of Health and others.)

Trends and outcomes of total and partial nephrectomy in children: A statewide analysis

ObjectiveTo report trends in surgical approach and associations with outcomes in children undergoing extirpative renal surgery in the state of Maryland over a 12-year period. MethodsThe Maryland Health Services Cost Review Commission (HSCRC) database was queried to identify children undergoing total or partial nephrectomy between 2000 and 2011. Demographic, clinical, hospital, and charge data were compared between children undergoing open and minimally invasive renal surgery. Multivariable logistic regression analysis was performed to identify independent predictors of prolonged length of hospital stay and 30-day readmission. Multivariable linear regression was performed to identify independent predictors of increased hospital charges. ResultsOf the 346 children undergoing extirpative renal surgery, 289 (83.5%) underwent total nephrectomy and 48 (13.9%) underwent minimally invasive surgery. Utilization of minimally invasive surgery for congenital urinary anomalies has steadily increased from 15% to 35% over the past decade. Children undergoing minimally invasive total nephrectomy were healthier, had shorter hospital stay, and were more likely to have surgery at a high-volume institution. No such differences were noted in patients undergoing open and minimally invasive partial nephrectomy. On multivariable regression analyses, high patient complexity was the main predictor of increased length of stay (OR 16.02, 95% CI 7.06–36.31), 30-day readmission (OR 3.04, 95% CI 1.38–6.70), and total hospital charge (p < 0.001). ConclusionIn Maryland hospitals, most extirpative renal surgeries in children are total nephrectomies performed using an open technique by high-volume surgeons. Although the overall proportion of minimally invasive surgeries has not increased over time, the utilization of MIS in congenital anomaly cases has. Patient complexity and not operative approach dictates postoperative morbidity and hospital charges.

Genitourinary Imaging: Part 1, Congenital Urinary Anomalies and Their Management

Congenital urinary anomalies may be symptomatic or encountered during imaging for other clinical indications. The array of abnormalities is related to the embryologic stage at the time of the developmental insult, and these abnormalities result in a spectrum of conditions ranging from insignificant to incompatible with life. Understanding the implications of common congenital urinary anomalies is the key to detecting associated anomalies, initiating therapy, and avoiding both complications and unnecessary intervention.

Maternal Risk Factors for Congenital Urinary Anomalies: Results of a Population-based Case-control Study

Epidemiologic data addressing maternal risk factors for congenital urinary tract anomalies (CUTA) are limited, with conflicting results for preexisting diabetes mellitus, gestational diabetes, and tobacco and alcohol use. The purpose of this study was to examine the association between maternal risk factors and CUTA in a population-based case-control study. A case-control analysis was performed using linked birth-hospital discharge records from Washington state for 1987-2007 to evaluate the association between maternal risk factors and CUTA. Cases were children with International Classification of Diseases, Ninth Revision, Clinical Modification codes for urinary anomalies. Controls without urinary tract anomalies were selected from Washington State birth records and matched by birth year in a ratio of 4:1. Logistic regression was performed to evaluate the association between maternal factors and CUTA. A total of 4673 cases and 18,692 controls were studied. In the multivariate analysis, gestational diabetes (OR 1.42, 95% CI 1.09-1.85), preexisting diabetes (OR 3.46, 95% CI 2.17-5.54), and maternal renal disease (OR 5.31, 95% CI 2.40-11.72) were all associated with an increased risk of kidney anomalies. Advanced maternal age (OR 1.20, 95% CI 1.06-1.35), gestational diabetes (OR 1.25, 95% CI 1.01-1.56), maternal renal disease (OR 4.06, 95% CI 1.95-8.46), and non-Caucasian race (OR 0.82, 95% CI .74-.91) were all associated with the risk of ureter, bladder, and urethra anomalies in multivariate analysis. Several maternal factors are associated with the risk of CUTA, including diabetes mellitus and maternal renal disease. This information can be used for prenatal counseling and management of women with these risk factors.

Urine IL-8 concentrations in infectious and non-infectious urinary tract conditions

Urine IL-8 concentrations are known to be elevated in urinary tract infection (UTI), as well as in vesicoureteral reflux (VUR) even in the absence of infection. In this study we further investigated urine IL-8 in infants with congenital anomalies of the kidneys and urinary tract and with antenatally diagnosed isolated pelvic dilatation. Urine IL-8 was measured in 159 infants aged 1 month to 1 year with acute UTI (group A, n = 26), resolved UTI (group B, n = 16), VUR without recent UTI (group C, n = 44), non-VUR congenital urinary anomalies without recent UTI (group D, n = 30), isolated antenatal pelvic dilatation (group E, n = 14) and in infants without known urinary tract condition (control group F, n = 29). Median values of urine IL-8/creatinine levels were 61.5, 4.64, 15.5, 14.3, 1.06 and 4.19 pg/μmol in groups A, B, C, D, E and F respectively. Compared with the control group, urine IL-8 was elevated in infants with acute UTI, VUR without acute UTI and congenital anomalies without acute UTI (p < 0.0001; p < 0.005; and p = 0.027 respectively), but not in infants with resolved UTI or with antenatal pelvic dilatation. Urine IL-8 levels are elevated in a variety of infectious and non-infectious urinary tract conditions, and hence may serve as a sensitive but not specific screening biomarker of urinary tract diseases.

Assessment and Management of Fetal Hydronephrosis

After completing this article, the reader should be able to: 1. Differentiate genitourinary abnormalities associated with hydronephrosis detected on fetal ultrasonography. 2. Describe the type of fetal hydronephrosis that requires a complete uroradiologic evaluation. 3. Characterize the complete postnatal uroradiologic evaluation of significant fetal hydronephrosis. 4. Delineate the factor that sets the timetable for postnatal uroradiologic evaluation. 5. Describe the neonates for whom diuretic renography is reserved. Ultrasonographic detection of antenatal anomalies in the fetus has increased steadily since its initial widespread use in the 1970s. During these early years, antenatal ultrasonography detected structural abnormalities in approximately 1% to 3% of all pregnancies. (1) Currently, it is estimated that genitourinary anomalies comprise 20% of all antenatally detected fetal anomalies. (2) In a recent British population-based study, fetal genitourinary anomalies were identified in 2.3% of women undergoing routine obstetric ultrasonography between 18 and 23 weeks of gestation. (3) Hydronephrosis clearly has become the most commonly detected antenatal anomaly on fetal ultrasonography. Detection of antenatal dilation of the urinary tract does not always indicate postnatal urinary tract obstruction or even a significant genitourinary anomaly. (4) Among infants diagnosed as having prenatal hydronephrosis or other genitourinary anomalies, the question often is raised about the need for and extent of the postnatal evaluation to assess the magnitude of this commonly detected antenatal anomaly. The purpose of this review is to provide a framework for assessment and management of antenatally detected hydronephrosis. Fetal hydronephrosis is a nonspecific finding that can be associated with multiple congenital anomalies of the genitourinary tract. A thorough understanding of disorders that can result in hydronephrosis postnatally allows the physician to assess the need for postnatal diagnostic tests and guide treatment recommendations. The congenital anomalies that may result in hydronephrosis can be categorized as disorders of urinary reflux and disorders of urinary obstruction. It can be …

Congenital urinary anomalies associated with neural tube defects

Congenital urinary anomalies associated with neural tube defects

VALUE OF MATERNAL SONCGRAPHY IN THE DETECTION OF CONGENITAL ABNORMALITIES OF THE URINARY TRACT

During the 1 year period from 1982-1983, 9 cases of congenital urinary malformation referred to our hospital had been detected by maternal ultrasonography. All sonograms were done in the last trimester of pregnancy to evaluate fetal maturity and without suspicion of a possible malformation. All babies had further radiological investigations in the inmediate post natal period including renal sonogram, VCUG and radionuclide renal scan, which correlated well with the prenatal sonogram findings.All 9 patients had unilateral urinary malformations including 2 multicystic kidneys, 1 dysplastic kidney, 3 UPJ obstructions, 2 V.U. Reflux and 1 mesoblastic nephroma.Elective surgical procedures were performed in all cases. These patients accounted for 36% of the congenital urinary malformation diagnosed in the newborn period in our institution during this period of time.The maternal sonogram therefore, represents an important diagnostic tool in the detection of congenital urinary anomalies and may significantly affect the peri-natal management and thus minimize renal damage.