Single Port Robotic Pyeloplasty: early single-center experience

ABSTRACT Purpose: Ureteropelvic junction obstruction (UPJO) is a prevalent cause of hydronephrosis, especially in young patients. The treatment paradigm for this condition has shifted from open to minimally invasive pyeloplasty. In the present study we describe our initial single centre experience with single port (SP) robot-assisted pyeloplasty (RAP) via periumbilical incision. Material and methods: With the patient in a 60-degree left flank position, the SP system is docked with the Access port (Intuitive Surgical, Sunnyvale, CA, US) placed in a periumbilical 3 cm incision. Robotic instruments are deployed as follows: camera at 12 o'clock, bipolar grasper at 9 o'clock, scissors at 3 o'clock and Cadiere at 6 o'clock. After isolation and identification of the ureter and the ureteropelvic junction (UPJ), the ureter is transected at this level and then spatulated. Anastomosis is carried out by two hemicontinuous running sutures, over a JJ stent. Results: Between 2021 and 2023, a total of 8 SP RAP have been performed at our institution, with a median (interquartile range, IQR) of 23 years (20.5-36.5). Intraoperative outcomes showed a median (IQR) OT of 210.5 minutes (190-240.5) and a median (IQR) estimated blood loss (EBL) of 50 mL (22.5-50). No postoperative complications were encountered, with a median (IQR) length of stay (LOS) of 31 hours (28.5-34). Conclusion: In the present study we evaluated the feasibility and safety of SP RAP. The observed outcomes and potential benefits, combined with the adaptability of the SP platform, hold promising implications for the application of SP system in pyeloplasty treatment.

Evaluating TIMP-2 and IGFBP-7 as a predictive tool for kidney injury in ureteropelvic junction obstruction

ABSTRACT A major challenge in the management of ureteropelvic junction obstruction (UPJO) is the selection of patients who would benefit from surgical treatment. Tissue inhibitor metalloproteinase-2 (TIMP-2) and insulin-like growth factor-binding protein 7 (IGFBP7) indicate renal cell stress and are associated with cell cycle arrest. The [TIMP-2] [IGFBP7] ratio (Nephrocheck®) has been recently applied in patients in intensive care units patients to predict the development of acute kidney injury. In this study, we evaluated the performance of these biomarkers performance to distinguishing obstructive hydronephrosis (HN) from non-obstructive HN. Materials and Methods: Consecutive patients with UPJO were enrolled in this study. Urinary [TIMP-2] [IGFBP7] and clinical characteristics (hydronephrosis grade, differential renal function, and drainage half-time) were measured in the following groups: 26 children with obstructive HN at initial diagnosis (group 1A) and after six months of dismembered pyeloplasty (group 1B); 22 children with non-obstructive HN (group 2), and 26 children without any urinary tract condition, as the control group (group 3). Results: Comparing the initial samples, [TIMP-2] [IGFBP7] had higher levels in the HN groups and lower levels in the control group; however, no difference was observed between the HN groups (obstructive vs. non-obstructive). After six months of follow-up, patients who underwent dismembered pyeloplasty showed stability in the urinary concentration of [TIMP-2] [IGFBP7]. All patients with [TIMP-2] [IGFBP7] higher than 1.0 (ng/mL)2/1000 had diffuse cortical atrophy on ultrasonography. Conclusions: We showed that urinary levels of urinary [TIMP-2] [IGFBP7] are higher in children with HN than controls. Nephrocheck® is not reliable in predicting the need for surgical intervention for pediatric patients with UPJO.

Association between Genitourinary and Congenital Heart Defects: A 52-year Case-Control Study of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) / Asociación entre cardiopatías congénitas y malformaciones congénitas urinarias: Un estudio de casos y controles de 52 años del Estudio Colaborativo Latino Americano de Malformaciones Congénit

Background Congenital urological anomalies are present in 4.3/10 thousand newborns, and their association with other anomalies may increase the overall mortality and disability. The present study establishes the risk of having congenital urological anomalies presenting associated cardiopathies. Methods We conducted a retrospective case-control study using the Latin American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, ECLAMC, in Spanish). The analysis included all registered cases of congenital urological malformation from 1967 to 2019. Patients with or without associated heart defects were included for the statistical analysis. Odds ratios (ORs) were calculated using a 95% confidence interval (95% CI). We compared the variables with the Chi-squared test and analysis of variance (ANOVA). The statistical analysis was performed using the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, United States) software, version 27.0. Values of p < 0.05 were considered statistically significant. Results A total of 7,767,161 newborns were evaluated, and 17,834 genital and upper urinary tract malformations were identified. Of these, 64.2% were genital anomalies, and 35.8% were abnormalities of the upper urinary tract. Genitourinary malformations and concomitant congenital heart defects (GU + C) were observed in 3.5% of the cases. Subjects with GU + C had a higher number of malformations (4.59 ± 2.3) than patients without heart defects (1.53 ± 1.58) (p < 0.000). The OR was of 3.61 (range: 1.86­7.00) for cloacal exstrophy, of 4.01 (range: 3.14­5.12) for imperforate anus, of 5.52 (range: 3.92­7.78) for horseshoe kidney, and of 13.7 (range: 6.65­28.22) for trisomy 21 (Down syndrome) with malformations of the upper urinary tract. Conclusion The association of congenital heart defects with urological anomalies is higher for complex congenital anomalies such as imperforate anus, cloacal exstrophy, and ho

Introducción Las malformaciones congénitas urológicas están presentes en 4,3/10 mil, y su asociación con otros defectos puede aumentar la mortalidad global y la discapacidad. Este estudio analiza la presentación de las malformaciones congénitas urológicas asociadas a las cardiopatías congénitas. Métodos Este es un estudio retrospectivo de casos y controles que usa el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC). Se incluyeron todos los casos registrados de malformaciones congénitas urológicas de 1967 a 2019, y todos los casos con y sin defectos cardiacos. Se calculó la razón de disparidad (RD) usando un intervalo de confianza del 95% (IC 95%). Se probó la hipótesis con el Chi-cuadrado y análisis de la varianza (analysis of variance, ANOVA, en inglés). Se realizó el análisis estadístico por medio del programa Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, Estados Unidos), versión 27.0. Se consideró la significancia estadística con valores de p < 0,05. Resultados Se evaluaron 7.767.161 recién nacidos, y se identificaron 17.834 malformaciones genitales y del tracto urinario superior. De estas, 64,2% fueron genitales, y 35,8%, de vías urinarias superiores. El 3,5% de los casos tenían malformaciones genitourinarias y defectos cardiacos congénitos concomitantes (GU + C). Aquellos con GU + C tenían mayor número de malformaciones (4,59 ± 2,3) que los pacientes sin defectos cardiacos (1,53 ± 1,58) (p < 0,000). La RD fue de 3.61 (rango: 1,86­700) para la extrofia cloacal, de 4,01 (3,14­5,12) para el ano imperforado, de 5,52 (3,92­7,78) para el riñón en herradura, y de 13,7 (6,65­28,22) para la trisomía 21 (síndrome de Down) con malformaciones del tracto urinario superior. Conclusión La asociación entre defectos cardiacos congénitos y anomalías urológicas es significativa en malformaciones congénitas complejas como el ano imperforado, la extrofia cloacal, y el riñón en herradura. Los pacientes con síndrome de Down y malformaciones urológicas tienen la mayor probabilidad.

Clinical and radiographic outcomes following salvage intervention for ureteropelvic junction obstruction

ABSTRACT Purpose: We aimed to assess failure rates of salvage interventions and changes in split kidney function (SKF) following failed primary repair of ureteropelvic junction obstruction (UPJO). Materials and Methods: A retrospective review of adult patients at an academic medical center who underwent salvage intervention following primary treatment for UPJO was performed. Symptomatic failure was defined as significant flank pain. Radiographic failure was defined as no improvement in drainage or a decrease in SKF by ≥7%. Overall failure, the primary outcome, was defined as symptomatic failure, radiographic failure, or both. Results: Between 2008-2017, 34 patients (median age 38 years, 50% men) met study criteria. UPJO management was primary pyeloplasty/secondary endopyelotomy for 21/34 (62%), primary pyeloplasty/secondary pyeloplasty for 6/34 (18%), and primary endopyelotomy/secondary pyeloplasty for 7/34 (21%). Median follow-up was 3.3 years following secondary intervention. Patients undergoing primary pyeloplasty/secondary endopyelotomy had significantly higher overall failure than those undergoing primary pyeloplasty/secondary pyeloplasty (16/21 [76%] vs. 1/6 [17%], p=0.015). Among patients undergoing secondary endopyelotomy, presence of a stricture on retrograde pyelogram, stricture length, and SKF were not associated with symptomatic, radiographic, or overall failure. Serial renography was performed for 28/34 (82%) patients and 2/28 (7%) had a significant decline in SKF. Conclusions: Following failed primary pyeloplasty, secondary endopyelotomy had a greater overall failure rate than secondary pyeloplasty. No radiographic features assessed were associated with secondary endopyelotomy failure. Secondary intervention overall failure rates were higher than reported in the literature. Unique to this study, serial renography demonstrated that significant functional loss was overall infrequent.

Can extended upper pole ureterectomy prevent ureteral stump syndrome after proximal approach for duplex kidneys?

ABSTRACT Introduction: Symptomatic duplex kidneys usually present with recurrent urinary tract infection due to ureteral obstruction (megaureter, ureterocele or ectopic ureter) and/or vesicoureteral reflux. Upper-pole nephrectomy is a widely accepted procedure to correct symptomatic duplex systems with poor functioning moieties, also known as upper or proximal approach. The distal ureteral stump syndrome (DUSS) can be a late complication of this approach. There is no consensus upon the length of ureteral dissection and the better approach to symptomatic disease in duplex systems, so we aim to identify if extended ureteral dissection can prevent DUSS in top-down approach. Materials and Methods: Forty-four consecutive patients with symptomatic duplex system were retrospectively classified into two groups: those with limited ureteral excision after heminephrectomy (HN) (group-1) and those with extended ureterectomy after HN (group-2). Patients were followed-up for at least 36 months regarding outcomes of distal ureteral stump. Results: Overall complication was 20%. A total of 8 patients required unplanned further surgery in Group-1 (30%) whereas only 1 patient required unplanned surgery in group 2 (6%) (p=0.07). Subgroup analysis showed that Group-1 presented more DUSS requiring surgery during follow-up than group-2 (p=0.04). Factors possibly affecting complications incidence (such as ureterocele or ectopic ureter) did not differ between groups (p=0.72 and p=0.78). Conclusion: Upper pole nephrectomy should be performed with extended distal ureteral dissection to prevent ureteral stump complications.

Diagnóstico prenatal de anomalías nefrourológicas en el Centro de Referencia Perinatal Oriente, Santiago, Chile / Prenatal diagnosis of nefrourological anomalies at the Eastern Perinatal Referral Center, Santiago, Chile

INTRODUCCIÓN: Las anomalías congénitas de los riñones y las vías urinarias (CAKUT, Congenital Anomalies of the Kidney and Urinary Tract) representan un 20-30% de las anomalías detectadas en el periodo prenatal. Si bien la mayoría son de buen pronóstico, un 25% se asocian a enfermedad renal crónica en la infancia y en los casos graves a mortalidad perinatal. OBJETIVO: Describir los casos ingresados al Centro de Referencia Perinatal Oriente (CERPO) y determinar los resultados perinatales y la sobrevida al año. MÉTODO: Estudio descriptivo y retrospectivo. Se incluyeron pacientes ingresadas en la base de datos CERPO, entre los años 2003 y 2019, con diagnóstico de anomalía nefrourológica. Se incluyeron antecedentes prenatales, perinatales y de seguimiento posnatal al año. RESULTADOS: Se evaluaron 273 pacientes. La edad gestacional promedio de derivación fue de 29 semanas + 2 días. El diagnóstico más frecuente fueron las anomalías del tracto de salida (69%). Un 40% de los casos se asociaron a otras anomalías congénitas, siendo las cardiopatías las más frecuentes (19%). Aceptaron la realización de estudio genético invasivo 38 pacientes, de las cuales un 34% presentaron aneuploidías, siendo las trisomías 18 y 13 las más frecuentes (17% y 6%, respectivamente). Se instalaron cinco shunts derivativos vesicoamnióticos en fetos diagnosticados con megavejiga. La sobrevida global para la patología nefrourológica fue del 63% al año, y la mortalidad fetal y neonatal fue del 7% y el 16%, respectivamente. La sobrevida al año según el grupo de clasificación CAKUT fue del 22% para las anomalías de número de riñones, del 46% para las anomalías de tamaño y de morfología renal, del 60% para las anomalías de la posición renal y del 72% para las anomalías del tracto de salida. En este último grupo, la sobrevida alcanza el 81% al excluir los pacientes con diagnóstico prenatal de megavejiga, que presentaron una sobrevida al año del 28%. Los casos de patología nefrourológica asociada a oligohidramnios (índice de líquido amniótico < 5 cm) sin evidencias de uropatía obstructiva asociada presentaron una sobrevida al año del 3%. CONCLUSIONES: Las anomalías del sistema nefrourológico son un diagnóstico prenatal frecuente. La sobrevida al año fue del 63%, pero es necesario prolongar el seguimiento a largo plazo para determinar la evolución de la función renal en cada diagnóstico. La asociación de patología nefrourológica y oligohidramnios conlleva una sobrevida menor.

INTRODUCTION: Congenital anomalies of the kidneys and urinary tract (CAKUT) represent 20 to 30% of the anomalies detected prenatally. Although most are of good prognosis, 25% are associated with chronic kidney disease in childhood and severe cases with perinatal mortality. OBJECTIVE: To describe the cases studied in the Eastern Perinatal Referral Center (CERPO) and to determine the perinatal outcome and survival at one year. METHOD: Descriptive and retrospective study. Patients registered on the CERPO database, between 2003 to 2019, with diagnosis of nephrourological anomaly were included. Antenatal, perinatal and postnatal follow-up information was collected. RESULTS: 273 patients were evaluated. The average gestational age at referral was 29 + 2 weeks. The main diagnosis was urinary tract outlet disorders (69%). Thirty nine percent of the cases were associated with other congenital anomalies, with heart disease being the most frequent (19%). Thirty-eight patients accepted an invasive procedure for genetic study, 34% presented aneuploidy, trisomy 18 and 13 were the most frequent (17% and 6% respectively). Five vesico-amniotic derivative shunts were installed in fetuses diagnosed with megabladder. Overall survival at one year was 63% and fetal and neonatal mortality were 7% and 16% respectively. One-year survival per group according to CAKUT classification was 22% in kidney number abnormalities, 46% in kidney size and morphology abnormalities, 60% in renal position abnormalities and 72% in outflow tract abnormalities. In the latter, survival reaches 81% excluding the patients with prenatal diagnosis of megabladder who had a one-year survival of 28%. The cases of nephrourological pathology associated with oligohydramnios (amniotic fluid index < 5 cm) without evidence of associated obstructive uropathy presented a survival of 3% at one year. CONCLUSIONS: The anomalies of the nephrourological system correspond to a frequent prenatal diagnosis. Overall, the one-year survival was 63%; however, follow-up must continue to determine the evolution of renal function in relation to each diagnosis.

Urinary tract infection in pediatrics: an overview / Infecção do trato urinário em pediatria: uma visão geral

Abstract Objective This review aimed to provide a critical overview on the pathogenesis, clinical findings, diagnosis, imaging investigation, treatment, chemoprophylaxis, and complications of urinary tract infection in pediatric patients. Source of data Data were obtained independently by two authors, who carried out a comprehensive and non-systematic search in public databases. Summary of findings Urinary tract infection is the most common bacterial infection in children. Urinary tract infection in pediatric patients can be the early clinical manifestation of congenital anomalies of the kidney and urinary tract (CAKUT) or be related to bladder dysfunctions. E. coli is responsible for 80-90% of community-acquired acute pyelonephritis episodes, especially in children. Bacterial virulence factors and the innate host immune systems may contribute to the occurrence and severity of urinary tract infection. The clinical presentation of urinary tract infections in children is highly heterogeneous, with symptoms that can be quite obscure. Urine culture is still the gold standard for diagnosing urinary tract infection and methods of urine collection in individual centers should be determined based on the accuracy of voided specimens. The debate on the ideal imaging protocol is still ongoing and there is tendency of less use of prophylaxis. Alternative measures and management of risk factors for recurrent urinary tract infection should be emphasized. However, in selected patients, prophylaxis can protect from recurrent urinary tract infection and long-term consequences. According to population-based studies, hypertension and chronic kidney disease are rarely associated with urinary tract infection. Conclusion Many aspects regarding urinary tract infection in children are still matters of debate, especially imaging investigation and indication of antibiotic prophylaxis. Further longitudinal studies are needed to establish tailored approach of urinary tract infection in childhood.

Resumo Objetivo Esta revisão teve como objetivo fornecer uma visão crítica da patogênese, achados clínicos, diagnóstico, investigação por imagem, tratamento, quimioprofilaxia e complicações da infecção do trato urinário em pacientes pediátricos. Fonte de dados Os dados foram obtidos de forma independente por dois autores que fizeram uma pesquisa abrangente e não sistemática em bancos de dados públicos. Síntese dos achados A infecção do trato urinário é a infecção bacteriana mais comum em crianças. Em pacientes pediátricos, pode ser a manifestação clínica precoce de anomalias congênitas do rim e trato urinário (CAKUT) ou estar relacionada a disfunções da bexiga. A E. coli é responsável por 80-90% dos episódios agudos de pielonefrite adquirida na comunidade, principalmente em crianças. Os fatores de virulência bacteriana e o sistema imunológico inato do hospedeiro podem contribuir para a ocorrência e gravidade da infecção do trato urinário. A apresentação clínica de infecções do trato urinário em crianças é altamente heterogênea, com sintomas que podem ser bastante obscuros. A cultura de urina ainda é o padrão-ouro para o diagnóstico de infecção do trato urinário e os métodos de coleta de urina em centros individuais devem ser determinados com base na precisão das amostras coletadas. O debate sobre o protocolo de imagem ideal ainda está em andamento e há uma tendência a um menor uso da profilaxia. Medidas opcionais e o manejo dos fatores de risco para infecção do trato urinário recorrente devem ser enfatizados. Entretanto, em pacientes selecionados, a profilaxia pode proteger contra infecção do trato urinário recorrente e consequências em longo prazo. Segundo estudos populacionais, hipertensão e doença renal crônica raramente são associadas à infecção do trato urinário. Conclusão Muitos aspectos relacionados à infecção do trato urinário em crianças ainda são motivo de debate, principalmente a investigação por imagem e a indicação de profilaxia com antibióticos. Estudos longitudinais adicionais são necessários para estabelecer uma abordagem personalizada da infecção do trato urinário na população pediátrica.

Factors affecting fluoroscopy time during percutaneous nephrolithotomy: Impact of stone volume distribution in renal collecting system

ABSTRACT Purpose: To identify the factors increased fluoroscopy time during percutaneous nephrolithotomy and investigate the relationship between the 3D segmentation volume ratio of stone to renal collecting system and fluoroscopy time. Materials and Methods: Data from 102 patients who underwent percutaneous nephrolithotomy were analyzed retrospectively. Volume segmentation of both the renal collecting system and stones were obtained from 3D segmentation software with the images on CT data. Analyzed stone volume (ASV), renal collecting system volume (RCSV) measured and the ASV-to-RCSV ratio was calculated. Several parameters were evaluated for their predictive ability with regard to fluoroscopy time. Results: The stone-free rate was 55.9% after the percutaneous nephrolithotomy. Complications occurred in 31(30.4%) patients. The mean fluoroscopy time was 199.4±151.1 seconds. The fluoroscopy time was significantly associated with the ASV-to-RCSV ratio (p<0.001, r=0.614). The single tract was used in 77 (75.5%) cases while multiple tracts were used in 25 (24.5%) cases. Fluoroscopy time was significantly associated with multiple access (p<0.001, r=0.689). On univariate linear regression analysis, longer fluoroscopy time was related with increased stone size, increased stone volume, increased number of access, increased calyx number with stone, increased ASV-to-RCSV, increased operative time and decreased stone essence. On multivariate linear regression analysis, the number of access and the ASV-to-RCSV were independent predictors of fluoroscopy time during percutaneous nephrolithotomy. Conclusions: The distribution of the stone burden volume in the pelvicalyceal system is a significant predictor for prolonged fluoroscopy time during percutaneous nephrolithotomy. Measures to decrease FT could be beneficial in patients with a high ASV-to-RCSV ratio for precise preoperative planning.

Comparison of the outcomes of laparoscopic pyeloplasty with and without concomitant pyelolithotomy

ABSTRACT Objective We aimed to evaluate the results of laparoscopic pyeloplasty with concomitant pyelolithotomy and compare results with a cohort of patients undergoing laparoscopic pyeloplasty without pyelolithotomy. Materials and Methods We retrospectively reviewed records of 43 patients undergoing transperitoneal laparoscopic Anderson-Hynes dismembered pyeloplasty between December 2012 and July 2018 at our department. Eighteen patients (42%) underwent laparoscopic pyeloplasty with concomitant pyelolithotomy. The results of patients with renal stones were compared with 25 matched patients undergoing laparoscopic pyeloplasty without concomitant renal stones. Demographic data, operative and stone parameters were compared between the groups. Results The groups were similar regarding to demographic characteristics. All operations were completed laparoscopically with no conversions to open surgery. In 3 cases without renal stones and 15 cases with renal stones, transposition of the ureter due to crossing vessels was performed. The mean stone size was 13±5.24 mm, and the median number of stones was 1 (1-18). The success of laparoscopic pyeloplasty with and without pyelolithotomy was 93.3% and 92.9%, respectively, as confirmed by negative diuretic renogram at postoperative 3rd months. Overall stone-free rate after laparoscopic pyelolithotomy was 93.3%. Mean operative time was 222.6765.71 minutes vs. 219.11±75.63 minutes for the pyeloplasty with concomitant pyelolithotomy vs. pyeloplasty, respectively (p=0.88). Conclusions Laparoscopic pyeloplasty with concomitant pyelolithotomy is a safe and effective intervention with associated good cosmetic results and high stone-free rates without significant increase in operative time or complications.

Flexible Fiberoptic Bronchoscopy Directed Interventions in Neonatal Intensive Care Unit

Objective: To describe the utility of flexible fiberoptic bronchoscopy for the diagnosis andmanagement in the neonatal ICU. Methods: A retrospective, medical chart review wasconducted in neonates who underwent flexible fiberoptic bronchoscopy over a period of 7years. Besides demographic data and diagnostic findings, the results of medical and/orsurgical interventions done by treating neonatologist were recorded. Results: 88bronchoscopies were performed in 83 neonates, of which 37 were done throughendotracheal tube. Indications included persistent need for mechanical ventilation (32),persistent atelectasis (21), and stridor (27). Most common airway anomalies diagnosedincluded tracheobronchomalacia (20), laryngomalacia (18), subglottic stenosis (7), choanalatresia (4), laryngeal cleft (4), and tracheoesophageal fistula (4). Surgical interventions wereundertaken in 17 cases (9 tracheostomies and 2 cases of slide tracheoplasty). Conclusion:Flexible fiberoptic bronchoscopy can be beneficial for the diagnosis and management ofneonates with persistent or undiagnosed respiratory problems.

Changing bulking agent may require change in injection volume for endoscopic treatment of vesicoureteral reflux

ABSTRACT Introduction: Various bulking agents were utilized for endoscopic correction of VUR. A study reviewing multi-institutional data showed that the amount of injection material has increased over time with the purpose of improving success rates, which also resulted in costs. We noticed an opposite trend in our center since we started using a new bulking agent. The aim of this study was to evaluate evolution of our practice with different bulking agents. Patients and Methods: Records of VUR patients who underwent subureteric injection with polyacrylate polyalcohol copolymer (PPC) and dextronomere hyaluronic acide (DxHA) between 2005 and 2014 were reviewed. Variation of different parameters throughout the study period was evaluated along with the success rate. Success was defined as complete resolution of reflux. Results: A total of 260 patients with 384 refluxing units were included. The success rate was higher in PPC group compared to DxHA group. There was no statistically significant difference between years regarding distribution of VUR grade, body weight, patient height, and age in PPC group. Despite significant reduction in injection volume, success rate did not decrease through the years with PPC. Conclusion: Different bulking agents may require different injection volumes to achieve the same success rate in endoscopic treatment of vesicoureteral reflux. Habits gained with previous experience using other materials should be revised while using a new agent.

Detección de mutaciones del gen de HNF1B en niños con malformaciones congénitas renales y del tracto urinario / Detection of mutations of the HNF1B gene in children with congenital anomalies of the kidney and urinary tract

Resumen: Introducción: Las anomalías congénitas del riñón y del tracto urinario se originan de alteraciones genéticas, en su mayoría desconocidas. Las mutaciones en el gen que codifica para el factor hepatocitario nuclear 1B (HNF1B), son la causa monogénica más frecuentemente descrita. Se desconocen datos en Chile y Latinoamérica. Objetivo: Determinar la presencia de variantes del gen HNF1B en niños chilenos con anomalías congénitas del riñón y/o tracto urinario y sus características clínicas. Pacientes y Mé todo: Estudio descriptivo con pacientes entre 10 meses y 17 años, consultantes en Unidad de Nefrología Hospital Luis Calvo Mackenna, período abril - diciembre 2016, portadores de displasia renal quística, displasia/hipoplasia renal no quística y/o riñón en herradura. Se determinaron variantes de HNF1B mediante secuenciación de exones 1, 2, 3 y 4; previa extracción y amplificación de DNA. Se utilizaron enzimas de restricción para definir si variantes eran homo o heterocigotas. Familiares di rectos de casos índices se estudiaron con secuenciación del exón afectado. Resultados: Se incluyeron 32 pacientes, 43,75% varones, mediana edad 11 años. El 65,6% displasia/hipoplasia renal no quística, 31,25% displasia renal quística y 3,15% riñón en herradura. En 2 pacientes (6,25%) se detectó una misma variante genética heterocigota en exón 4, posición 1027 (C1027T), no descrita anteriormente. El estudio de familiares determinó la variante en 3 de 5 individuos, todos sin anomalías nefrouro- lógicas congénitas. Conclusiones: Confirmamos la presencia de una variante genética heterocigota del gen HNF1B, no descrita previamente, dando inicio a la búsqueda de este tipo de mutaciones en nuestro medio, lo cual nos permite aproximarnos al conocimiento de causalidad, determinación de compromiso extrarrenal y consejo genético.

Abstract Introduction: Congenital anomalies of the kidney and urinary tract are caused by genetic alterations mostly unknown. Mutations in the gene that codes for hepatocyte nuclear factor 1B (HNF1B) are the most frequently described monogenic causes. Data are unknown in Chile and Latin America. Objective: To determine the presence of variants of the HNF1B gene in Chilean children with conge nital anomalies of the kidney and/or the urinary tract and their clinical characteristics. Patients and Method: Descriptive study with children aged 10 months to 17 years, patients of the Calvo Mackenna Hospital Nephrology Unit, with cystic renal dysplasia, non cystic renal dysplasia/hypoplasia, horses hoe kidney between April and December 2016. HNF1B variants were determined by sequencing of exons 1, 2, 3 and 4 after DNA extraction and amplification. Restriction enzymes were used to define if the variants were homo or heterozygous. Direct family members of index cases were studied with sequencing of the affected exon. Results: 32 patients were included, 43.75% males, median age 11 years. 65.6% of them had non-cystic renal dysplasia, 31.25% cystic renal dysplasia, and 3.15% hor seshoe kidney. In two patients (6.25%) the same heterozygous genetic variant was detected in exon 4, position 1027 (C1027T), not previously described. The study of relatives found the same variant in three out of five individuals, all without congenital nephro-urological anomalies. Conclusions: We confirmed the presence of a not previously described heterozygous genetic variant of the HNF1B gene. This work initiates the search for this type of mutations in our region which allows us to ap proach the knowledge of causality, determination of extrarenal involvement, and genetic counseling.

99mTc-DTPA Diuretic Renography with 3 hours late output fraction in the evaluation of hydronephrosis in children

ABSTRACT Objective: Dynamic renal scintigraphy complemented by late gravity assisted postvoid images to 60 minutes is a frequently used diagnostic test in the evaluation of hydrone- phrosis. The objective of this study is to evaluate the effectiveness in acquiring images at 180 minutes to calculate the late output fraction (LOF) of 99mTc-DTPA in the diagno- sis of ureteropelvic junction obstruction (UPJO). Materials and Methods: A retrospective study of 177 patients (196 renal units) of sus- pected cases of clinical UPJO was conducted. The patients were submitted to at least two dynamic renal scintigraphies of 99mTc-DTPA, with the addition of furosemide (F0), with a mean age of 4.3±3.8 years for the first study, and a follow-up of 2.7±2.5 years. Results: For diagnosis based on renal curves, a 100% sensitivity, 82.2% specificity, positive predictive value (PPV) of 10.4% and negative predictive value (NPV) of 100% were estimated. For diagnosis based on LOF, a 100% sensitivity, 96.3% specificity, PPV of 35.7% and NPV of 100% were estimated. Conclusion: A LOF <10% is indicative of UPJO, and a LOF ≥15% is indicative of no UPJO. The data demonstrate that LOF presents equivalent sensitivity and NPV, and higher specificity and PPV in comparison to diagnosis based on renal curves, and is useful in the evaluation and follow-up of suspected cases of UPJO.

Congenital anomalies of the kidney and the urinary tract in Down syndrome children / Anomalías congénitas del riñón y del tracto urinario en niños con síndrome de Down

Abstract Congenital anomalies of the kidney and the urinary tract are congenital diseases related to Down syndrome. There are not specific recommendations. A literature review was made using key words through scientific databases (Pubmed, Science Direct, Ovid, Scholar Google, UpToDate). CAKUT in Down syndrome include glomerulonephritis, kidney agenesis, microcysts, ectopic kidneys, hydronephrosis and hydroureter, even posterior urethral valves and anterior urethra obstruction, and hypospadias. It will be feasible thinking about performing kidney and urinary tract ultrasonography in first week of life. Urethrocystography must be done in selected cases. If urinary incontinence exists, patient has a history of urinary tract infections, vesicoureteral reflux has been diagnosed or if a decrease in glomerular filtration rate has been identified, we should check for vesical dysfunction associated to symptoms and urologic evaluation could be needed (uroflowmetry or urodynamics). It might be adequate an annual clinical follow up of kidney function.

Resumen Las anomalías del riñón y el tracto urinario hacen parte de las anomalías congénitas relacionadas con el síndrome de Down. No existen recomendaciones específicas. Para el presente estudio, se hizo una revisión por palabras clave en bases de datos (Pubmed, Science Direct, Ovid, Google académico, UpToDate). Se encontró que, en niños con síndrome de Down, las enfermedades congénitas del riñón y el tracto urinario abarcan glomerulonefritis, agenesia renal, microquistes, riñones ectópicos, hidronefrosis, hidrouréter, valvas uretrales posteriores, obstrucción de la uretra anterior e hipospadias. Con respecto a los procesos diagnósticos, sería razonable realizar una ecografia renal durante la primera semana de vida. Adicionalmente, la uretrocistografía sería útil solo en casos seleccionados. Si hay un historial de incontinencia urinaria o de infecciones urinarias de repetición; o se detecta un reflujo vesicoureteral, o caída de la tasa de filtración glomerular estimada, debería considerarse la existencia de una disfunción vesical asociada y podría ser pertinente una evaluación urológica (uroflujometría o urodinamia). Sería recomendable hacer un seguimiento clínico anual de la función renal.

The Prenatal and Postnatal Incidence of Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT) Detected by Ultrasound

PURPOSE: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common anomalies identified in newborns. This study aims to demonstrate the prevalence of CAKUT including hydronephrosis diagnosed by antenatal and postnatal ultrasound over a five-year period. METHODS: The records of births between May 1st, 2009 and April 30th, 2014 at our hospital were collected. The number of infants who underwent renal ultrasound after birth for the detection of CAKUT was counted. The incidence of each type of CAKUT such as hydronephrosis, size abnormality, horseshoe kidney, and Multicystic dysplastic kidney (MCDK) was retrospectively evaluated for antenatal screening and postnatal follow-up examination. RESULTS: During the study period, 33,276 infants were born and 521 neonates underwent postnatal renal ultrasound. 183 cases of CAKUT were detected prenatally and 140 postnatally using ultrasonographic examinations at the following time: (i) 3-7 days postnatally in 123 newborns (87.9%), (ii) during 1-3 months in 11 newborns (7.9%), and (iii) later than 3 months in 6 newborns (4.3%). Among diagnosed CAKUT, hydronephrosis was the most common anomaly with 113 newborns diagnosed prenatally and 46 postnatally. Duplex kidney was the second most common anomaly followed by horseshoe kidney, simple cysts in the kidney and so on. CONCLUSION: The detection of CAKUT is an important part of the prenatal ultrasound. This study analyzed the prevalence of CAKUT detected on prenatal screening and compared the results to those detected postnatally. Prenatal ultrasound screening fulfills the needs of postnatal examinations and therefore, both antenatal and postnatal sonographic investigations are of vital importance for diagnosis of renal and urinary tract anomalies.

Atualização da abordagem de infecção do trato urinário na infância / Update on the approach of urinary tract infection in childhood

Resumo Objetivo: A infecção do trato urinário (ITU) é a infecção bacteriana mais comum na infância. A ITU pode ser o evento sentinela para alteração renal subjacente. Ainda há muitas controvérsias com relação ao tratamento adequado da ITU. Neste artigo de revisão, discutimos as últimas recomendações para diagnóstico, tratamento, profilaxia e imagiologia da ITU na infância, com base em comprovação e, na sua ausência, no consenso de especialistas. Fonte de dados: Os dados foram coletados após uma revisão da literatura e pesquisa no Pubmed, Embase, Scopus e Scielo. Resumo dos dados: No primeiro ano de vida, as ITUs são mais comuns em meninos (3,7%) do que em meninas (2%). Os sinais e sintomas da ITU são muito inespecíficos, principalmente em neonatos e durante a infância. A febre é o único sintoma em muitos casos. Conclusões: O histórico clínico e exame físico podem sugerir ITU, porém a confirmação deve ser feita por urocultura. Antes da administração de qualquer agente antimicrobiano, deve ser feita coleta de urina. Durante a infância, a coleta de urina adequada é essencial para evitar resultados falso-positivos. O diagnóstico e o início do tratamento imediatos são importantes na prevenção de cicatriz renal de longo prazo. Neonatos febris com ITUs devem ser submetidos a ultrassonografia renal e da bexiga, Agentes antibacterianos intravenosos são recomendados para neonatos e neonatos jovens. Recomendamos também a exclusão de uropatias obstrutivas o mais rapidamente possível e posterior refluxo vesico-ureteral, caso indicado. A profilaxia deve ser considerada em casos de elevada susceptibilidade a ITU e risco elevado de danos renais.

Abstract Objective: Urinary tract infection (UTI) is the most common bacterial infection in childhood. UTI may be the sentinel event for underlying renal abnormality. There are still many controversies regarding proper management of UTI. In this review article, the authors discuss recent recommendations for the diagnosis, treatment, prophylaxis, and imaging of UTI in childhood based on evidence, and when this is lacking, based on expert consensus. Sources: Data were obtained after a review of the literature and a search of Pubmed, Embase, Scopus, and Scielo. Summary of the findings: In the first year of life, UTIs are more common in boys (3.7%) than in girls (2%). Signs and symptoms of UTI are very nonspecific, especially in neonates and during childhood; in many cases, fever is the only symptom. Conclusions: Clinical history and physical examination may suggest UTI, but confirmation should be made by urine culture, which must be performed before any antimicrobial agent is given. During childhood, the proper collection of urine is essential to avoid false-positive results. Prompt diagnosis and initiation of treatment is important to prevent long-term renal scarring. Febrile infants with UTIs should undergo renal and bladder ultrasonography. Intravenous antibacterial agents are recommended for neonates and young infants. The authors also advise exclusion of obstructive uropathies as soon as possible and later vesicoureteral reflux, if indicated. Prophylaxis should be considered for cases of high susceptibility to UTI and high risk of renal damage.

Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract / Estudo da associação entre o gene BMP-4 e anomalias congênitas do rim e trato urinário

OBJECTIVE: To determine the frequency of different phenotypes for congenital anomalies of the kidney and urinary tract (CAKUT) in a Brazilian sample, and to evaluate the association between the CAKUT phenotypes and the BMP4 gene. METHODS: In this study, 457 Brazilian individuals were analyzed in an attempt to establish the association between the BMP4 gene and the CAKUT diagnosis. A case-control sample was genotyped for three BMP4 gene polymorphisms. RESULTS: Association data was established with CAKUT sample as a whole and with the three most important CAKUT phenotypes: multicystic dysplastic kidney disease (MDK), ureteropelvic junction obstruction (UPJO) and vesicoureteral reflux (VUR). When the sample was segregated in these three phenotypes, associations between the BMP4 gene were observed with UPJO and with MDK. Conversely, VUR was not associated to the polymorphisms of the BMP4 gene. CONCLUSIONS: The present data suggest that Brazilian individuals with polymorphisms of the BMP4 gene have a higher risk to develop CAKUT, especially the malformations related to nephrogenesis and initial branching such as MDK and UPJO. Conversely, VUR appeared not to be related to BMP4 gene. .

OBJETIVO: Determinar a frequência de diferentes fenótipos de anomalias congênitas do rim e trato urinário (CAKUT) em uma amostra brasileira e avaliar a associação entre os CAKUT e o gene BMP-4. MÉTODOS: Neste estudo, analisamos 457 indivíduos brasileiros em uma tentativa de estabelecera associação entre o gene BMP-4 e o diagnóstico de CAKUT. As amostras de caso e de controle foram genotipadas em busca de três polimorfismos do gene BMP-4. RESULTADOS: Os dados de associação foram estabelecidos com a amostra de CAKUT como um todo e com os três fenótipos de CAKUT mais importantes: rim displásico multicístico (RDM), obstrução da junção ureteropélvica (UPJO) e refluxo vesico-ureteral (VUR). Quando a amostra foi separada nesses três fenótipos, encontramos associações entre o gene BMP-4 com UPJO e com RDM. Por outro lado, o VUR não foi associado aos polimorfismos do gene BMP-4. CONCLUSÕES: Esses dados sugerem que os indivíduos brasileiros com polimorfismos do gene BMP-4 apresentam maior risco de desenvolver CAKUT, principalmente as malformações relacionadas a nefrogênese e ramificação inicial, como RDM e UPJO. Por outro lado, o VUR parece não estar relacionado ao gene BMP-4. .

Ultrasound screening of urinary system in 14256 asymptomatic children / 重庆医科大学学报

Objective:To investigate the clinical characteristics of urinary system abnormalities in Chongqing and its surrounding area, and to assess the role of the large-scale urinary system ultrasound screening in the asymptomatic children with kidney and urinary tract abnormalities. Methods:We performed urinary system ultrasound on Screening 14 256 children from September 2008 to October 2008 in Chongqing Children’s Hospital. The total samples were allocated into five groups as follows:less than 1 year group;1 to 3 years group;3 to 5 years group;5 to 10 years group ;more than 10 years group. Then according to each group’s age,sex,disease location,severity difference,we performed statistical analysis. Results:409(2.87%)of 14 256 children had abnormalities,284 of whom was diagnosed with significant anomalies,including hydronephrosis,renal maldevepment (aplastic,dysplastic,hypoplastic,ectopic kidneys)and renal agensis,nephrolithiasis,simple renal cyst,multicystic dysplastic kidneys (MCKD),ureter dilation,duplex kidneys and so on. Among these anomalies,the most prevalent abnormal finding was hydronephrosis accounting for 130 cases,almost a half of 284 (45.77%),92 cases in males,38 cases in femal. The prevalence of melamine related urinary calculus was as 5.17 times as that of others and its 95% confidence interval(CI)of population relative risk was [3.28,8.14]. Conclusion:① Ultrasonography in the diagnosis of diseases of the urinary system can play an important role,especially for congenial anomalies of kidney and urinary tract(CAKUT)and /or hydronephrosis and so on. Therefore,an early diagnosis of these defects allows to realize as fast as possible the best medical and/or surgical treatment, preventing or at least slowing down the progression to chronic renal failure. ② The prevalence rate of hydronephrosis in male is higher than female. ③Exposure to melamine- contaminated formula is associated with urinary stones.