Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.

AIMS: To investigate genotype and phenotype of congenital nephrogenic diabetes insipidus caused by AVPR2 mutations, which is rare and limitedly studied in Chinese population. METHODS: 88 subjects from 28 families with NDI in a department (Beijing, PUMCH) were screened for AVPR2 mutations. Medical records were retrospectively reviewed and characterized. Genotype and phenotype analysis was performed. RESULTS: 23 AVPR2 mutations were identified, including six novel mutations (p.Y117D, p.W208R, p.L313R, p.S127del, p.V162Sfs*30 and p.G251Pfs*96). The onset-age ranged from 1 week to 3 years. Common presentations were polydipsia and polyuria (100%) and intermittent fever (57%). 21% and 14% of patients had short stature and mental impairment. Urine SG and osmolality were decreased, while serum osmolality and sodium were high. Urological ultrasonography results showed hydronephrosis of the kidney (52%), dilation of the ureter (48%), and thickened bladder wall or increased residual urine (32%), led to intermittent urethral catheterization (7%), cystostomy (11%) and binary nephrostomy (4%). Urological defects were developed in older patients. Genotype and phenotype analysis revealed patients with non-missense mutations had higher levels of serum sodium than missense mutations. CONCLUSION: In the first and largest case series of NDI caused by AVPR2 mutations in Chinese population, we established genetic profile and characterized clinical data, reporting six novel mutations. Further, we found genotype was associated with phenotype. This knowledge broadens genotype and phenotype spectrum of rare congenital NDI caused by AVPR2 mutations, and provides basis for studying molecular biology of AVPR2.

Fetal body MRI and its application to fetal and neonatal treatment: an illustrative review.

This Review depicts the evolving role of MRI in the diagnosis and prognostication of anomalies of the fetal body, here including head and neck, thorax, abdomen and spine. A review of the current literature on the latest developments in antenatal imaging for diagnosis and prognostication of congenital anomalies is coupled with illustrative cases in true radiological planes with viewable three-dimensional video models that show the potential of post-acquisition reconstruction protocols. We discuss the benefits and limitations of fetal MRI, from anomaly detection, to classification and prognostication, and defines the role of imaging in the decision to proceed to fetal intervention, across the breadth of included conditions. We also consider the current capabilities of ultrasound and explore how MRI and ultrasound can complement each other in the future of fetal imaging.

Robotics in Pediatric Urology: Evolution and the Future.

Almost 30 years have passed since the inception of minimally invasive surgery in urology and specifically in pediatric urology. Laparoscopy has now become an essential tool in the pediatric urologic armamentarium. The application of robot-assisted surgery in pediatrics has allowed for widespread utilization for common reconstructive procedures such as pyeloplasty and ureteral reimplantation. Understanding the implementation, technical considerations, and outcomes are critical for continued success and adoption. This has allowed for increased use in more complex urologic procedures such as redo pyeloplasty, dismembered ureteral reimplantation, catheterizable channel creation, and bladder augmentation.

Pediatric Kidney Transplantation in Patients With Urologic Anomalies.

INTRODUCTION: and Aim. End-stage renal disease owing to structural urologic anomalies is frequent in the pediatric population. Impaired bladder function is thought to have a negative effect on graft function and survival. The aim of this study was to present our single-center experience and long-term follow-up results in pediatric patients who underwent renal transplantation for urologic reasons and to compare graft survival among patients who underwent transplantation for nonurologic reasons. METHOD: The paper records of renal transplanted children (<18 years of age) held by Ege University Medical Faculty between 1998 and 2018 were evaluated retrospectively. Patients with normal bladder function who underwent transplantation for urologic reasons were defined as group A, whereas patients who had impaired bladder function and underwent transplantation for urologic reasons were defined as group B; a control group was defined as group C. RESULTS: Eighty-three patients were included in the study. The creatinine values of the patients at their last visit were no different between groups (P = .930). One-, 5-, and 10-year graft survival rates were 97%, 89%, and 74%, respectively, in group A; 100% for all years in group B; and 97%, 94%, and 80%, respectively, in group C. There was no statistically significant difference in terms of graft survival between groups (P = .351). CONCLUSION: Children with end-stage renal disease owing to urologic abnormalities may be good candidates for kidney transplantation with a favorable prognosis for graft function and survival.

Outcome of fetuses with lower urinary tract obstruction and normal amniotic fluid volume in second trimester of pregnancy.

OBJECTIVE: Congenital lower urinary tract obstruction (LUTO) is a rare condition with high perinatal mortality and morbidity when associated with severe oligohydramnios or anhydramnios in the second trimester of pregnancy. Severe pulmonary hypoplasia and end-stage renal disease are the underlying causes of poor neonatal outcome in these cases. However, little is known about the subset of fetal LUTO that is associated with a normal volume of amniotic fluid at midgestation. The objective of the current study was to describe the natural history, underlying causes, survival and postnatal renal function outcomes in pregnancies with fetal LUTO and normal amniotic fluid volume during the second trimester of pregnancy. METHODS: This was a retrospective study of all pregnancies with fetal LUTO and normal amniotic fluid volume in the second trimester that received prenatal and postnatal care at our quaternary care institution between 2013 and 2017. Data on demographic characteristics, fetal interventions, perinatal survival, need for neonatal respiratory support, postnatal renal function and need for dialysis at the age of 1 and 24 months were analyzed. RESULTS: Of the 18 fetuses that met the study criteria, 17 (94.4%) survived the perinatal period. Eleven (61.1%) pregnancies developed oligohydramnios in the third trimester, six of which were eligible for and underwent fetal intervention with vesicoamniotic shunt placement, which was performed successfully in all six cases. Two (11.1%) neonates required respiratory support owing to pulmonary hypoplasia. At the age of 2 years, 14 children had follow-up information available, two (14.3%) of whom had normal renal function, eight (57.1%) had developed some degree of chronic kidney disease (Stage 1-4) and four (28.6%) had developed end-stage renal disease (ESRD), including two who had already manifested ESRD in the neonatal period. CONCLUSIONS: Most fetuses diagnosed prenatally with LUTO that is associated with a normal volume of amniotic fluid at midgestation will have a favorable outcome in terms of perinatal survival and few will need long-term respiratory support. However, these children are still at increased risk for chronic renal disease, ESRD and need for renal replacement therapy. Larger multicenter studies are needed to characterize the prenatal factors associated with postnatal renal function, and to investigate the role of fetal intervention in the group of fetuses that present with late-onset oligohydramnios and evidence of preserved fetal renal function. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

First-year profile of biomarkers for early detection of renal injury in infants with congenital urinary tract obstruction.

BACKGROUND: Diagnosis of renal function impairment and deterioration in congenital urinary tract obstruction (UTO) continues to be extremely challenging. Use of renal biomarkers in this setting may favor early renal injury detection, allowing for a reliable choice of optimal therapeutic options and prevention or minimization of definitive renal damage. METHODS: This longitudinal, prospective study analyzed the first-year profile of two serum renal biomarkers: creatinine (sCr) and cystatin C (sCyC); and six urinary renal biomarkers: neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), transforming growth factor beta-1 (TGF-ß1), retinol-binding protein (RBP), cystatin C (uCyC), and microalbuminuria (µALB) in a cohort of 37 infants with UTO divided into three subgroups: 14/37 with unilateral hydro(uretero)nephrosis, 13/37 with bilateral hydro(uretero)nephrosis, and 10/37 patients with lower urinary tract obstruction (LUTO), compared with 24 healthy infants matched by gestational age and birth weight. RESULTS: All urine biomarkers showed significantly higher values at the first month of life (p ≤ 0.009), while NGAL (p = 0.005), TGF-ß1 (p < 0.001), and µALB (p < 0.001) were high since birth compared to controls. Best single biomarker performances were RBP in bilateral hydronephrosis and LUTO subgroups and KIM-1 in unilateral hydronephrosis subgroup. Best biomarker combination results for all subgroups were obtained by matching RBP with TGF-ß1 or KIM-1 and NGAL with CyC ([AUC] ≤ 0.934; sensitivity ≤ 92.4%; specificity ≤ 92.8%). CONCLUSIONS: RBP, NGAL, KIM-1, TGF-ß1, and CyC, alone and especially in combination, are relatively efficient in identifying surgically amenable congenital UTO and could be of practical use in indicating on-time surgery.

Urinary tract anomalies and urinary tract dysfunction in children with Hirschsprung disease-Is follow-up indicated?

BACKGROUND/PURPOSE: Urinary tract function in children with Hirschsprung disease (HD) is rarely considered. AIM: to evaluate the prevalence of urinary tract anomalies and dysfunction in children with HD compared to controls. METHODS: This was an observational cross sectional case-control study. Children with HD who underwent transanal endorectal pull-through technique (TERPT) from 2005 to 2017 were invited to participate. Ultrasound of the urinary tract was performed postoperatively. Children >4 years were asked to answer a urinary tract function questionnaire. Controls were age-matched healthy children. Ethical approval was obtained. RESULTS: Seventy two children with HD and TERPT were included. Ultrasound was performed in 58 children (83%) post-TERPT. Ten anomalies were diagnosed in six children (10%). Structural anomalies included abnormal kidney size (7%), renal agenesis (2%), prominent calyces (2%) and renal pelvis anomaly (25). Probable acquired anomalies included hydronephrosis (2%), hydroureter (2%) and parenchymal damage (2%). One child had a prior nephrectomy owing to a Wilms' tumor. All 37 children >4 years (27 boys and 10 girls), median aged 8 years (range 4-12), answered the questionnaire as did 284 healthy controls (144 boys and 140 girls). Boys with HD reported a higher frequency of enuresis: 65% versus 9% (p = 0.001) and urinary tract infections: 18% versus 3% (p = 0.012). Girls with HD reported enuresis more frequently (60%) than healthy girls (7%) (p = 0.001). Children with HD with constipation reported enuresis more frequently (p = 0.038). CONCLUSIONS: Urinary tract anomalies and dysfunction deserve attention in the follow-up of children with HD. We suggest screening for urinary tract anomalies and urinary tract symptoms in follow-up of children with HD. TYPE OF STUDY: Treatment study. LEVEL: III.

Actualización en anomalías renales y de vías urinarias altas en pediatría / Update in renal and upper urinary tract anomalies in pediatrics

La urología pediátrica comprende una extensa serie de patologías de complejidad variable, que afectan al sistema urogenital, y que suponen aproximadamente el 50% de las intervenciones quirúrgicas en cirugía pediátrica. describiremos aquellas de mayor impacto y repercusión clínica desde el punto de vista quirúrgico, destacando las denominadas CaKUt o anomalías congénitas del riñón y del tracto urinario. estas últimas tienen su origen en la alteración de alguno de los procesos que conforman el desarrollo renal: a) Malformación del parénquima renal: hipoplasia, displasia, agenesia renal y riñón multiquístico (drMQ). b) anomalías relacionadas con la migración de los riñones: ectopia renal y anomalías de fusión. c) anomalías en el desarrollo del sistema colector: estenosis pieloureteral (epU), duplicidades ureterales, megauréter primario, uréter ectópico, ureterocele y válvulas de uretra posterior (VUp). El objetivo de este artículo es determinar en qué casos es necesaria la cirugía para resolver un problema urológico en el niño y cuándo es el mejor momento para realizar la intervención

Pediatric Urology comprises an extensive series of pathologies of variable complexity, which affect the urogenital system, and account for approximately 50% of surgical interventions in pediatric surgery. We will describe those ones of greater impact and clinical repercussion from the surgical point of view, highlighting the so-called CaKUt or congenital anomalies of the kidney and urinary tract. the latter have their origin in the alteration of some of the processes during the renal development: a) Malformation of the renal parenchyma: hypoplasia, dysplasia, renal agenesis and multicystic kidney (MCdK). b) abnormalities related to the migration of the kidneys: renal ectopia and fusion anomalies. c) abnormalities in the development of the collecting system: pyelo-ureteral stenosis, ureteral duplicities, primary megaureter, ectopic ureter, ureterocele and posterior uretral valves. R The objective of this article is to inform about the cases in which surgery is necessary to solve a urological problem in the child, and the best time to perform the intervention

Genetic basis of human congenital anomalies of the kidney and urinary tract.

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.

Classification of pediatric urinary tract dilation: the new language.

The multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system) was created to unify the language used to describe urinary tract dilation on antenatal and postnatal ultrasound examinations and thereby facilitate communication among providers and improve outcomes research. The background and new classification system are described in this review, with imaging examples.

Association between cord blood cystatin C levels and early mortality of neonates with congenital abnormalities of the kidney and urinary tract: a single-center, retrospective cohort study.

BACKGROUND: Some fetuses with congenital abnormalities of the kidney and urinary tract (CAKUT) have severe renal dysfunction during the prenatal period that can result in oligohydramnios, pulmonary hypoplasia, and death following birth. We hypothesized that cord blood cystatin C (CysC) levels are elevated in neonates who have life-threatening pulmonary hypoplasia and oligohydramnios due to severe renal dysfunction. In this study we compared cord blood CysC levels between a non-survivor group with CAKUT and a survivor group. METHODS: This was a single-center, retrospective cohort study conducted between January 2007 and December 2015. Eighty-seven neonates who were prenatally diagnosed with CAKUT were included in the study. Cord blood CysC and creatinine levels were compared between the survivor and non-survivor groups at discharge from hospital. RESULTS: Of the 87 neonates enrolled in the study, 67 survived and 21 died before discharge. Median cord blood CysC levels were higher in the non-survivor group than in the survivor group (4.28 vs. 1.96 mg/L, respectively; p < 0.001). Cord blood creatinine levels were not significantly different between the two groups. In patients with oligohydramnios (n = 28), cord blood CysC levels were significantly higher in the non-survivor group than in the survivor group (4.28 vs. 2.23 mg/L, respectively; p = 0.002). CONCLUSIONS: In this study population, cord blood CysC levels were significantly higher in the non-survivor group with CAKUT than in the survivor group. These results suggest that cord blood CysC levels may be a good marker of the severity of renal dysfunction at birth.

Role of biomechanical forces in hyperfiltration-mediated glomerular injury in congenital anomalies of the kidney and urinary tract.

Congenital anomalies of the kidney and urinary tract (CAKUT) including solitary kidney constitute the main cause of progressive chronic kidney disease (CKD) in children. Children born with CAKUT develop signs of CKD only during adolescence and do not respond to renin-angiotensin-aldosterone system blockers. Early cellular changes underlying CKD progression to end-stage renal disease by early adulthood are not well understood. The mechanism of maladaptive hyperfiltration that occurs from loss of functional nephrons, including solitary kidney, is not clear. We re-examine the phenomenon of hyperfiltration in the context of biomechanical forces with special reference to glomerular podocytes. Capillary stretch exerts tensile stress on podocytes through the glomerular basement membrane. The flow of ultrafiltrate over the cell surface directly causes fluid flow shear stress (FFSS) on podocytes. FFSS on the podocyte surface increases 1.5- to 2-fold in animal models of solitary kidney and its effect on podocytes is a subject of ongoing research. Podocytes (i) are mechanosensitive to tensile and shear forces, (ii) use prostaglandin E2, angiotensin-II or nitric oxide for mechanoperception and (iii) use specific signaling pathways for mechanotransduction. We discuss (i) the nature of and differences in cellular responses to biomechanical forces, (ii) methods to study biomechanical forces and (iii) effects of biomechanical forces on podocytes and glomeruli. Future studies on FFSS will likely identify novel targets for strategies for early intervention to complement and strengthen the current regimen for treating children with CAKUT.

Heminefrectomía en pacientes con doble sistema renal. Experiencia en el Hospital Garrahan / Heminephrectomy in patients with a duplex kidney. Experience at the Garrahan Hospital

La heminefrectomía puede constituir el tratamiento definitivo en el 85% de los pacientes con diagnóstico de doble sistema con uno de los mismos no funcionante. Actualmente el abordaje laparoscópico es de elección tanto por sus resultados estéticos como evolución postoperatoria. Materiales y métodos: se efectuó una revisión y análisis retrospectivo de todos los pacientes operados de heminefrectomía desde el año 2000 a 2014. Resultados: 44 pacientes fueron operados de forma convencional durante el período 2000-2010 y 30 de forma laparoscópica transperitoneal durante el período 2010-2014. La media de duración del procedimiento fue menor para el grupo convencional (89,6 vs 128 min, p = 0,000) mientras que la media de estadía hospitalaria fue menor para el grupo laparoscópico (4,2 vs 5,1, p = 0,19). La tasa de reoperación fue mayor en el grupo convencional (20,4% vs 6,7%, p = 0,18) y la principal causa fue por la presencia un muñón ureteral sintomático. En los controles por centellograma DMSA (en 19 pacientes del segundo grupo) no se objetivó la pérdida de función de la unidad remanente en ningún individuo. Conclusiones: La heminefrectomía es un procedimiento seguro con baja tasa de complicaciones cuya tendencia actual es realizar la cirugía de forma laparoscópica obteniendo resultados similares y menor tasa de complicaciones que en la forma convencional (AU)

Heminephrectomy may be the definitive treatment in 85% of patients diagnosed with a duplex kidney system of which one is not working. Currently, a laparoscopic approach is the treatment of choice because of both esthetic results and postoperative outcome. Material and methods: A retrospective analysis of all patients who underwent heminephrectomy between 2000 and 2014 was conducted. Results: 44 patients underwent conventional surgery in the period 2000-2010 and 30 underwent transperitoneal laparoscopy in the period 2010-2014. Mean duration of the procedure was less in the conventional group (89.6 vs 128 min, p = 0.000), while the mean hospital stay was less in the laparoscopic group (4.2 vs 5.1, p = 0.19). Reoperation rate was higher in the conventional group (20.4% vs 6.7%, p = 0.18) and the main cause was presence of a symptomatic ureteral stump. On DMSA whole body scan controls (in 19 patients in the second group) no loss of function of the remaining unit was observed in any of the patients. Conclusions: Heminephrectomy is a safe procedure with a low complication rate and a current trend to be performed using laparoscopy with similar results and a lower complication rate than in conventional surgery (AU)

Trends in Renal Transplantation Rates in Patients with Congenital Urinary Tract Disorders.

PURPOSE: Improved bladder and renal management benefit patients with congenital uropathy and congenital pediatric kidney disease. This may translate to delayed initial renal transplantation in these patients, and improved graft and patient survival. Our primary study purpose was to determine whether patients with congenital uropathy and congenital pediatric kidney disease have demonstrated later time to first transplantation and/or graft survival. MATERIALS AND METHODS: SRTR (Scientific Registry of Transplant Recipients) was analyzed for first renal transplant and survival data in patients with congenital uropathy and congenital pediatric kidney disease from 1996 to 2012. Congenital uropathy included chronic pyelonephritis/reflux, prune belly syndrome and congenital obstructive uropathy. Congenital pediatric kidney disease included polycystic kidney disease, hypoplasia, dysplasia, dysgenesis, agenesis and familial nephropathy. RESULTS: A total of 7,088 patients with congenital uropathy and 24,315 with congenital pediatric kidney disease received a first renal transplant from 1996 to 2012. A significant shift was seen in both groups toward older age at initial renal transplantation in those 18 through 64 years old. In the congenital uropathy group this effect was most facilitated by decreased renal transplantion in patients between 18 and 35 years old (38% in 1996 vs 26% in 2012). The congenital pediatric kidney disease group showed a substantial decrease in patients who were 35 to 49 years old (from 39% to 29%). At 10-year followup the congenital uropathy group showed better graft and patient survival than the congenital pediatric kidney disease group. However, aged matched comparison revealed comparable survival rates in the 2 groups. CONCLUSIONS: Analysis of trends in the last 14 years demonstrated that patients with both lower and upper tract congenital anomalies experienced delayed time to the first renal transplant. Furthermore, patients had similar age matched graft and patient survival whether the primary source of renal demise was the congenital lower or upper tract. These findings may indicate that improved urological and nephrological care are promoting renal preservation in both groups.

Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.

UNLABELLED: Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function. CONCLUSION: The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome. WHAT IS KNOWN: • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney and urinary tract. Our study shows long-term follow up (median 16 years, range 12.2-18 years), especially in patients not needing surgery, but with persistent anomalies. • During postnatal long-term follow up (median 2.2 years, range 0.1-18 years) one third each showed normalization, need of surgery or persistence of anomalies without need of surgery. Our study revealed a good prognosis in the majority of these children, in particular with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis, and revealed oligohydramnios and postnatal bilateral anomalies as risk factors for a non-favourable outcome, defined as need of surgery, persistent anomalies with impaired renal function, end stage renal failure or death.

Congenital diseases of the lower urinary tract.

Congenital lower urinary tract diseases occur with variable frequency and may result in clinical signs of urinary incontinence, urinary obstruction, or urination through abnormal openings. This article discusses diagnosis of congenital diseases of the urinary bladder and urethra and describes treatment of these disorders.

Urinary screening and urinary abnormalities in 3-year-old children in Japan.

In Japan, urinary screening for preschool children has been obligatory since 1961. The system was reconsidered and has been under review since 2012, because many problems in the system had been identified, and its usefulness was uncertain. In the process, the following were analyzed: (i) frequency of urinary abnormalities identified on screening; (ii) diseases identified from urinary abnormalities; (iii) clinical course of children found to have urinary abnormalities; and (iv) screening for asymptomatic urinary tract infection (UTI) as a way of screening for congenital anomalies of the kidney and urinary tract. A computerized literature search was conducted, and study reports issued by the Ministry of Health, Labour and Welfare study group, and data of Akita City and Chiba City were reviewed. The prevalence of abnormal results at the first urinalysis was high, but at the second urinalysis the prevalence decreased in the range 1/6-1/20. The prevalence of tentative diagnosis at the third urinalysis was similar to the school urinary screening results. Serious illness was not found in children who had hematuria alone. In contrast, diseases requiring immediate attention were found in children with proteinuria, although the prevalence of proteinuria was not high. The dipstick method for leukocyturia was inefficient. The importance of two consecutive urinalyses before detailed examination, the lack of usefulness of screening for hematuria in 3-year-old children, and the importance of proteinuria were confirmed. Screening for asymptomatic UTI using urinary leukocytes was very inefficient.

Termination of pregnancy for renal malformations.

BACKGROUND: We studied the correlation between prenatal diagnosis and postmortem investigations in pregnancies terminated for renal malformations. METHODS: Over a 5-year period, 77 cases of termination of pregnancy (TOP) for renal malformations were reviewed. Chromosomal anomalies (n = 9) and cases without conventional or virtual autopsy were excluded (n = 15). In 53 cases, prenatal ultrasound diagnosis and conventional autopsy findings were compared. In addition, we compared the accuracy of conventional and virtual autopsy findings in 17 cases. RESULTS: Full agreement was observed in 60.4% (32/53) of cases. In 26.4% (14/53) of the cases, the presence of additional malformations did not alter the final diagnosis. However, in 11.3% (6/53) the final diagnosis was adjusted because of major additional findings. One case showed a total disagreement. Conventional and virtual autopsy were in full agreement in 52.9% (9/17). Postmortem magnetic resonance imaging (MRI) description and detection of malformations was less complete and failed to correctly diagnose 5/17 cases (29.4%). In 17.6% (3/17) of the cases, postmortem MRI revealed malformations not confirmed by conventional autopsy. CONCLUSIONS: A high correlation between prenatal ultrasound and postmortem investigations was observed. Conventional autopsy remains the gold standard to reveal additional major and minor malformations, leading to a correct final diagnosis. The added value of virtual necropsy for renal pathology was limited.

Ectopia renal cruzada / Crossed renal ectopiac

OBJETIVO: Aportación de dos casos de ectopia renal cruzada derecha sin fusión diagnosticada en pacientes varones de alrededor de 30 años que acuden a urgencias con sintomatología de cólico renal. MÉTODO: Presentamos los caso de dos varones que acuden al servicio de urgencias por dolor en fosa lumbar de tipo cólico. Después de realizar varias pruebas analíticas y de imagen, se descubre finalmente con la urografía intravenosa, una ectopia renal cruzada. RESULTADOS/CONCLUSIÓN: La ectopia renal cruzada derecha sin fusión es una anomalía congénita poco frecuente con una mayor incidencia en hombres. Lo más común es encontrar una ectopia renal cruzada con fusión del riñón ortotópico o en el caso que no haya fusión, que éste se encuentre en posición inferior al riñón normal, a diferencia del caso presentado. Ésta malformación no suele ir acompañada de otras alteraciones congénitas. La mayoría de casos se resuelven espontáneamente y no precisan de tratamiento quirúrgico intercurrente

OBJECTIVE: To report two cases of right crossed non-fused renal ectopia diagnosed in male patients about 30 years of age who arrived to emergency centres with symptoms of renal colic. METHODS: We report two cases of male patients who arrived to an emergency centre complaining of colic lumbar pain. Crossed renal ectopia was finally revealed by means of intravenous urogram after several analytical and imaging examinations. RESULTS/CONCLUSION: Right crossed non-fused renal ectopia is an uncommon congenital anomaly with a higher incidence in males. It is much more common to find a crossed fused renal ectopia of the orthotopic kidney. In contrast, if there is no fusion it may be located on the lower portion of the normal kidney, which is not the case in this instance. This malformation is not usually accompanied by other congenital anomalies. Most of cases are spontaneously solved and they do not require an intercurrent surgical intervention