Coexistencia infrecuente de la enfermedad de Tay-Sachs, coartación aórtica y reflujo vesicoureteral de grado V / Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux

La enfermedad de Tay-Sachs es una enfermedad metabólica hereditaria neurodegenerativa. Existen cuatro tipos según el inicio de los síntomas clínicos: infantil, infantil de inicio tardío, juvenil y adulto. El tipo infantil tiene el peor pronóstico. Recientemente, se describieron diferentes anomalías que acompañan a los trastornos metabólicos e influyen en el pronóstico. Presentamos el caso de un lactante con enfermedad de Tay-Sachs junto con coartación aórtica y reflujo vesicoureteral bilateral (RVU) de grado V. Se realizó el seguimiento del paciente en el consultorio externo de Cardiología Pediátrica. En la ecografía abdominal, se observó ectasia pielocalicial, y se detectó reflujo vesicoureteral bilateral de grado V en la cistouretrografía miccional. No se ha informado previamente la coexistencia de estas anomalías. Este caso pone de manifiesto que no se deben subestimar las anomalías del examen neurológico en los pacientes con una cirugía cardíaca reciente, porque podría perderse la oportunidad de diagnosticar enzimopatías congénitas.

Tay-Sachs disease is a neurodegenerative inherited metabolic disease. There are four forms classified by the time of first clinical symptoms: infantile, late infantile, juvenile and adult. Infantile form has the poorest prognosis. Lately, different abnormalities which accompany metabolic disorders and affect the prognosis have been described. We present an infant with Tay-Sachs disease accompanied by coarctation of the aorta and bilateral grade V vesicoureteral reflux (VUR). The patient was followed up in the outpatient clinic of Pediatric Cardiology. The abdominal ultrasonography showed pelvicalyceal ectasia; bilateral grade V VUR in voiding cystourethrography was found. This coexistence has not been previously reported. This case emphasizes that abnormalities in the neurological examination of cardiac postsurgical patients should not be underestimated because the opportunity to diagnose inborn errors of metabolism could be missed.

Características clínicas y evolución del reflujo vesicoureteral en la infancia / Clinical characteristics and outcome of childhood vesicoureteral reflux

Introducción. El objetivo fue evaluar las características clínicas y la evolución del reflujo vesicoureteral (RVU) según el sexo y grado de RVU.Población y métodos. Se incluyeron pacientes con RVU vistos durante el seguimiento de rutina entre enero de 2014 y enero de 2015. Se registraron las características demográficas, la evolución, los laboratorios y las imágenes.Resultados. Se seleccionó a 220 pacientes, cuya media de edad del diagnóstico era 3,17 ± 3,08 años; en ese momento, los varones eran menores que las niñas (2,00 ± 2,59 vs. 3,81 ± 3,15, p < 0,001). La infección urinaria fue la presentación más frecuente, seguida de hidronefrosis prenatal (HNP). El 22 % de los pacientes tuvo reflujo de grado 1-2; el 51 %, de grado 3; y el 27 %, de grado 4-5. En el reflujo de grado 4-5, las ecografías y gammagrafías con ácido dimercaptosuccínico (DMSA) marcado con 99mTc presentaron más anomalías, y se realizaron más cirugías (p < 0,001). En los varones, fueron más comunes el reflujo de grado 4-5 (43,6 % vs. 18,3 %) y las anomalías ecográficas (77 % vs. 54 %) y en la DMSA (77 % vs. 59 %) (p < 0,05). En las niñas, hubo mayores tasas de infección urinaria, disfunción de las vías urinarias inferiores y resolución espontánea (p < 0,05).Conclusiones. A pesar de la menor edad al momento del diagnóstico, la resolución espontánea fue menor en los varones, y estos presentaron HNP, reflujo grave y anomalías radiológicas más frecuentemente.

Introduction. The aim of the study was to assess the clinical features and outcome parameters of children with vesicoureteral reflux (VUR) based on gender and VUR grade.Population and methods. Patients with VUR who were seen during routine follow-up visits at Ankara University Children's Hospital between January 2014-January 2015 were included in this retrospective study. Patient demographics, clinical course, laboratory investigations, imaging were noted.Results. Two hundred and twenty patients were recruited. Mean age at the time of diagnosis was 3,17 ± 3,08 years. Boys were diagnosed at younger ages as compared to girls (2.00 ± 2,59 vs. 3,81 ± 3.15, p < 0.001). Urinary tract infection (UTI) was the most common presentation. The second presentation form was antenatal hydronephrosis (AHN) which was more common in males (25.6 %, p < 0.001). Twenty-two percent of the patients had grade 1-2, 51 % grade 3 and 27 % grade 4-5 reflux. Patients with grade 4-5 reflux had more abnormal ultrasound (US) and Tech 99m dimercaptosuccinic acid scintigraphy (DMSA) findings and surgery was performed more frequently in this group (p < 0.001). In males, grade 4-5 reflux (43.6 % vs. 18.3 %), abnormal US (77 % vs. 54 %) and DMSA (77 % vs. 59 %) findings were more frequent (p < 0.05). In girls higher rates of UTIs, lower urinary tract dysfunction (LUTD) and spontaneous reflux resolution were seen (p < 0.05).Conclusions: Despite younger age at diagnosis, spontaneous resolution was found lower in boys and they had more frequent AHN, more severe reflux, and radiological abnormalities.

Brazilian consensus on vesicoureteral reflux-recommendations for clinical practice

ABSTRACT Introduction Vesicoureteral Reflux (VUR) is characterized by a retrograde flow of urine from the bladder into the ureters and kidneys. It is one of the most common urinary tract anomalies and the major cause of urinary tract infection (UTI) in the first years of life. If not properly diagnosed and treated can lead to recurrent UTI, renal scar and, in severe cases, to end stage renal disease. Despite recent advances in scientific and technological knowledge, evaluation and treatment of VUR is still controversial and there is still considerable heterogeneity in evaluation methods and therapeutic approaches. The aim of the present consensus is to give a practical orientation on how to evaluate and treat VUR. Methods The board of Pediatric Urology of the Brazilian Society of Urology joined a group of experts and reviewed all important issues on Vesicoureteral Reflux evaluation and treatment and elaborated a draft of the document. On November 2017 the panel met to review, discuss and write a consensus document. Results and Discussion Vesicoureteral Reflux is a common and challenging problem in children. Children presenting with Vesicoureteral Reflux require careful evaluation and treatment to avoid future urinary tract infections and kidney scars. The panel addressed recommendations on up to date choice of diagnosis evaluation and therapies.

Solitary functioning kidney in children: clinical implications / Rim solitário em funcionamento em crianças: implicações clínicas

ABSTRACT Introduction: Children with solitary functioning kidney (SFK) are prone to develop long term problems, which are not well represented in the literature. The extent to which the presence of associated congenital anomalies of kidney and urinary tract (CAKUT) further de-stabilize renal function is to be addressed. Objective: This study was conducted to evaluate the etiology, presentation, presence of CAKUT, and renal damage in children with SFK. Methods: All children with SFK who presented to the department of pediatric surgery from March 2014 to May 2016 were included in the study. Children with malignancy were excluded from the study. Results: Of the 20 patients with SFK, 14 (70%) had primary SFK (8 with agenesis and 6 with multicystic dysplastic kidney), 6 (30%) belonged to secondary SFK group, among them 3 had pelviureteric junction obstruction, 2 had posterior urethral valves and 1 had vesicoureteric reflux. Eight (40%) had associated CAKUT, 4 (20%) were asymptomatic while 8 (40%) had UTI and 6 (30%) had hypertension. Ten (50%) patients had reduced glomerular filtration rate (GFR) suggesting compromised renal function. Conclusion: Children with SFK have high morbidity especially when associated with ipsilateral CAKUT. Long-term periodical follow up is essential in these patients to improve clinical outcome.

RESUMO Introdução: Crianças com rim solitário funcional (RSF) tendem a desenvolver problemas de longo prazo, que não são bem representados na literatura. Devemos abordar o quanto a presença de malformações congênitas do rim e do trato urinário (CAKUT) desestabiliza ainda mais a função renal. Objetivo: Este estudo foi realizado para avaliar a etiologia, apresentação, presença de CAKUT e dano renal em crianças com RSF. Métodos: Todas as crianças com RSF que se apresentaram no departamento de cirurgia pediátrica de março de 2014 a maio de 2016 foram incluídas no estudo. Crianças com doença maligna foram excluídas do estudo. Resultados: dos 20 pacientes com RSF, 14 (70%) tinham RSF primário (8 com agenesia e 6 com rim displásico multicístico), 6 (30%) pertenciam ao grupo RSF secundário, dentre eles 3 tinham obstrução da junção pelveuretérica, 2 tinham valvas uretrais posteriores e 1 refluxo vesico-uretral. Oito (40%) tinham ACRTU associado, 4 (20%) estavam assintomáticos, enquanto 8 (40%) tinham ITU e 6 (30%) tinham hipertensão. Dez (50%) pacientes apresentaram redução da taxa de filtração glomerular (TFG), sugerindo comprometimento da função renal. Conclusão: Crianças com RSF apresentam alta morbidade, especialmente quando associadas à CAKUT ipsilateral. O acompanhamento periódico a longo prazo é essencial nesses pacientes para melhorar o resultado clínico.

Serum interleukin -8 is not a reliable marker for prediction of vesicoureteral reflux in children with febrile urinary tract infection

Objective: In view of the side effects of voiding cystourethrography (VCUG), identification of noninvasive markers predicting the presence of vesicoureteral reflux (VUR) is important. This study was conducted to determine the predictive value of serum interleukin-8 (IL-8) in diagnosis of VUR in children with first febrile urinary tract infection (UTI). Materials and Methods: Eighty children with first febrile UTI were divided into two groups, with and without VUR, based on the results of VCUG. The sensitivity, specificity, positive and negative predictive value positive and negative likelihood ratio, and accuracy of IL-8 for prediction of VUR were investigated. Results: Of the 80 children with febrile UTI, 30 (37.5%) had VUR. There was no significant difference between the children with and without VUR and also between low and high-grade VUR groups in terms of serum concentration of IL-8 (P>0.05). Based on ROC curve, the sensitivity, specificity, likelihood ratio positive, and accuracy of serum IL-8 was lower than those of erythrocyte sedimentation rate and C-reactive protein. Multivariate logistic regression analysis showed significant positive correlation only between erythrocyte sedimentation rate and VUR. Conclusions: This study showed no significant difference between the children with and without VUR in terms of the serum concentration of IL-8. Therefore, it seems that serum IL-8 is not a reliable marker for prediction of VUR.

Vesicoureteric reflux in children

This study aimed to identify the differences between primary and secondary vesicoureteric reflux [VUR] and the effect of associated bladder abnormalities on kidney function. We retrospectively reviewed the medical records of children with VUR who were followed up at King Abdulaziz University Hospital from January 2005 to December 2010. The review included results of radiological investigations and kidney function tests. We used Chi-square test for statistical analysis and paired t-test to compare group means for initial and last creatinine levels. Ninety-nine children were included in this study. Twenty [20.2%] had primary VUR, 11 had high-grade VUR, while 9 had low-grade reflux. All children with low-grade VUR had normal dimercaptosuccinic acid [DMSA]. Renal scars were present in 72% of the children with high-grade VUR. The mean creatinine levels [initial and last] for both groups were normal. Seventy-nine [79.8%] children had secondary VUR, which was due to posterior urethral valves [PUV] [46.8%], neurogenic bladder caused by meningomyelocele [25.3%], non-neurogenic neurogenic bladder [NNB] [21.5%], or neurogenic bladder associated with prune belly syndrome [6.3%]. Children with NNB, meningomyelocele and PUV had high creatinine at presentation with no considerable worsening of their kidney functions during the last visit. Renal scars were present in 49.4% of the children with secondary VUR. Children with primary VUR and normal bladder had good-functioning kidneys, while those with secondary VUR associated with abnormal bladder caused by NNB, spina bifida or PUV had abnormal kidney functions. DMSA scans were useful in predicting higher grades of VUR in children with primary reflux

Una lesión en el cintigrama renal DMSA 6 meses post fase aguda de una pielonefritis representa siempre una cicatriz: un debate abierto / Evolution of scintigraphic renal lesions in children after an episode of acute pyelonephritis

Background: Abnormal Dimercaptosuccinic acid (DMSA) renal scintigraphy performed six months after an acute pyelonephritis (AP) is generally interpreted as scarring. Aim: To perform a follow up of childhood patients showing scintigraphic renal lesions during the acute phase of pyelonephritis (within 7 days from the beginning of fever). Material and Methods: A scintigraphic control was carried out at 5-7 months and, in case of persistent lesions, an additional late scintigraphy at 10-13 months. All patients were followed clinically for one year and those with a relapse of urinary tract infection were excluded from the study. Results: Eighty five patients with a median age of 8 months were included. Among these, the first scintigraphic control was normal in 59 (69%) and abnormal in 26 patients (31%). In five of these 26 patients (5/26:19%-5/85: 6%), a considerable regression of the lesions was obvious on the early control, and normalized completely on the late control. When expressing the results in kidney units, 107 showed lesions during the acute phase of infection; 69% was normal at the early control. Thirty three showed lesions persisting at the early control (31%) and 7 out of these 33 (21%) became normal on the late control (7/107: 7%). In total, 25% of the children included in the study (24% of the kidney units) remained with renal sequelae one year after the initial episode of AP. Conclusions: The persistence of scintigraphic lesions six months after an episode of AP, does not necessarily correspond to permanent scars, since normalization can sometimes be observed on late controls.

Reflujo vesicoureteral primario: comportamiento clínico epidemiológico durante 20 años en el Hospital Pediátrico de Holguín / Primary vesicoureteral reflux

Se realizó un estudio descriptivo con el objetivo de analizar el comportamiento clínico epidemiológico de los niños con el diagnóstico de Reflujo Vesicoureteral Primario, en el Hospital Pediátrico de Holguín, durante un período de 20 años: 1989 al 2008, a los que se les aplicó el Protocolo diagnóstico y terapéutico de Reflujo Vesicoureteral Primario concebido en nuestra institución. Fueron seguidos 255 pacientes y se les diagnosticó 379 unidades renales refluyentes. La frecuencia del Reflujo Vesicoureteral Primario disminuye con la edad, y se diagnosticó la mayoría durante el primer año de vida, con predominio en el sexo femenino. Cuando el Reflujo se sospecha durante la vida prenatal, es más común en sexo masculino. El grado III de Reflujo fue el más usualmente diagnosticado, en 122 unidades refluyentes, y predominó en el riñón izquierdo. La mayoría de los pacientes atendidos con Reflujo, se presentaron clínicamente con Infección del Tracto Urinario. La combinación de Uretrocistografía Miccional, Ultrasonido y Urograma Descendente constituye un método efectivo para el diagnóstico y seguimiento del Reflujo. Los grados I, II y III de Reflujo casi siempre desaparecen espontáneamente y existe una asociación directa entre Nefropatía de Reflujo y el alto grado de esta entidad. Un número reducido de pacientes, evolucionó a la Nefropatía de Reflujo, que representan el 25 por ciento. La mayoría de estos presentó Infección del Tracto Urinario y en un pequeño grupo, se sospechó una malformación renal desde la vida antenatal. La frecuencia de Insuficiencia Renal Crónica Terminal y de Hipertensión Arterial fue baja en este tipo de paciente.

Physical growth in children with reflux nephropathy with normal or mildly impaired renal function.

Ten children aged 11 months to 10 years (means 5.7 years) with reflux nephropathy, vesicoureteric reflux (VUR) and normal or mildly impaired renal function having GFR more than 50 ml/min/1.72 m2, were included in the study. The hematological and biochemical parameters were within normal limits. Height standard deviation score (HZ score) was reduced at entry and, decreased further during follow-up (-2.2 and -2.6 at 0 and 12 months, respectively). Weight for height index (WHI) improved significantly (p=0.0004) during follow-up. The basal and stimulated peak growth hormone levels of these patients were found to be elevated, 18.53 ± 11.36 μg/L and 34.20 ± 5.86 μg/L, respectively. The IGF-1 levels were low ranging from 45.00 to 84.40 ng/dl (mean ± SD 61.54 ± 10.21 ng/dl) compared to 51.80 to 247.50 ng/dl (mean ± SD111.20 ± 70.24 ng/dl) in age and sex matched controls, indicating partial insensitivity to growth hormone.

Transforming growth factor-β1 in congenital ureteropelvic junction obstruction: diagnosis and follow-up

OBJECTIVE: To assess the role of transforming growth factor-β1 (TGF-β1) in congenital ureteropelvic junction obstruction at diagnosis and during postoperative follow-up. MATERIAL AND METHODS: We conducted a case-control study including 19 patients with a mean age of 6.7 years and 19 matched controls. All patients presented negative voiding cystourethrography, obstructive diuretic renogram and underwent dismembered pyeloplasty. Urinary TGF-β1 and other markers were measured pre-, intra- and postoperatively. RESULTS: The mean bladder urine TGF-β1 concentration in obstructed patients prior to pyeloplasty was higher than in controls (92.5 pg/mL ± 16.8 vs. 35.8 pg/mL ± 16.2; p = 0.0001). The mean renal pelvic urine TGF-β1 concentration in the hydronephrotic kidney was higher than in the preoperative bladder urine sample (122.3 pg/mL ± 43.9 vs. 92.5 pg/mL ± 16.8; p = 0.036). Postoperative mean TGF-β1 concentration was significantly lower than preoperative TGF-β1 (48.7 pg/mL ± 13.1 vs. 92.5 pg/mL ± 16.8; p = 0.0001). CONCLUSION: TGF-β1 is a cytokine leading to renal fibrosis. The measurement of urinary TGF-β1 could become a useful tool for the diagnosis of obstructive hydronephrosis and the evaluation of the parenchyma function status, pre and postoperatively.

Reflujo vesicoureteral asociado a dilatación del tracto urinario fetal / Vesicoureteral reflux associated with dilation of fetal urinary tract

El objetivo del presente estudio fue presentar los porcentajes de reflujo vesicoureteral encontrados en niños a los cuales se detectó dilatación del tracto urinario superior durante el período fetal, en el seguimiento de un embarazo normal. MÉTODOS. En los niños con dilatación grave o moderada, confirmada después del nacimiento, se realizó uretrocistografía miccional para precisar la existencia de reflujo vesicoureteral como causa de la dilatación prenatal. Cuando no se pudo medir la pelvis en los ultrasonidos prenatales y sólo se informó ½ dilatación, se hizo el estudio atendiendo a los resultados del primer ultrasonido renal. En las dilataciones ligeras sólo se realizó uretrocistografía miccional si el niño se infectó, si la dilatación progresó o si existían síntomas asociados que indicaban una probable obstrucción urinaria baja. En las dilataciones bilaterales se estudiaron unidades renales con dilatación ligera, si en el riñón contralateral la dilatación era de mayor grado. RESULTADOS. Entre enero de 2002 y diciembre de 2007 fueron remitidos a la Consulta de Nefrología 119 niños a los que, mediante el seguimiento ultrasonográfico de un embarazo normal, se les había detectado una anomalía dilatante del tracto urinario. Diez niños abandonaron el seguimiento antes de que se precisara el diagnóstico y 109 fueron estudiados. En los 119 niños remitidos se encontraron 187 unidades dilatadas, ya que 78 tenían dilatación bilateral prenatal. De los 109 estudiados, 69 fueron varones con 118 unidades renales dilatadas y 40, niñas con dilatación en 69 unidades. Se encontró reflujo vesicoureteral en 22 pacientes (20,1 por ciento) y 33 unidades refluyentes, pues en 11 niños el reflujo era bilateral. Predominó el reflujo de alto grado (IV y V). CONCLUSIÓN. Entre las dilataciones del tracto urinario que se pesquisan en el período prenatal es necesario buscar un posible reflujo vesicoureteral, el cual està presente en el 20 % de los casos...

The aim of present study was to shows percentages of vesicoureteral reflux found in children presenting with dilation of upper urinary tract during fetal period in follow-up of normal a pregnancy. METHODS: In children with a severe o moderate dilation, confirmed after birth, we carried out a micturition urethra-cystography to set existence of vesicoureteral reflux as cause of prenatal dilation. When it was impossible to measure pelvis in prenatal USs, and only dilation reported, we made study considering results of first renal US. In slight dilations a micturition cystoureterogram if the child was infected, if dilation progressed or if there were associated symptoms signaling a probable lower urinary obstruction. In case of bilateral dilations we studied kidney units with slight dilations, if in contralateral kidney dilation was of a greater degree. RESULTS: Between January 2002 and December 2007, 119 children were referred to Nephrology consulting room in which by means of a ultrasonic follow-up of normal pregnancy, it was detected an expansive anomaly of urinary tract. Ten children left follow-up before specify exactly the diagnosis, and 109 were studied. In 119 children referred it was found 187 dilated units, since 78 had a prenatal bilateral dilation. Of 109 children studied, 69 were of male sex with 118 dilated kidney units, and 40 were of female sex presenting with dilation in 69 units. We found vesicoureteral reflux in 22 patients (20, 1 percent) and 33 flowed back units, since in 11 children reflux was bilateral. There was a predominance of high degree reflux (IV and V). CONCLUSIONS: Among dilations of urinary tract followed in prenatal period, it is necessary to find a possible vesicoureteral reflux, which is present in 20 percent of cases. Many of these patients may to have congenital renal affection.

value of renal ultrasound in children with a first episode of urinary tract infection

Urinary tract infection [UTI] is a common pediatric problem. Guidelines recommend obtainiing a renal ultrasonogram [RUS] for young children after a first UTI. Our aim was to assess the value of routine RUS in the management of children hospitalized with a first episode of UTI. We conducted a retrospective review of the medical records of 130 children 12 years of age or younger admitted with a first UTI. Children were excluded if they had a urinary tract abnormality before admisssion and/or had been treated with an antibacterial agent within 7 days before admission. The yield of RUS was measured by ability to detect renal abnormalities, by the sensitivity and specificity for detecting vesicoureteral reflux [VUR] using voiding cystourethrogram [VCUG] as a gold standard, and by its influence on UTI managemment. RUS was conducted in 130 children, but only 118 returned for a VCUG and were included in the study. The findings were positive for VUR in 20 of 40 patients [50%] with a confirmed VUR on VCUG and posittive in 18 of 78 patients [23.1%] without VUR on VCUG. Of the 20 patients with a normal RUS who showed VUR, 2 had grade I reflux, 8 had grade II reflux, 7 had grade III reflux and 3 had grade IV reflux. The sensitivity, specificity, positive and negative predictive value of ultrasound in suggesting VUR was 50% and 76.9%, 52.6% and 75%, respectively. Except for one, the result of an abnormal RUS did not alter the management of our pattients. The results of our study show that the RUS has a little value in the management of children with a first UTI

Vesicoureteral reflux: current concepts and management implications.

Long term controlled studies in children with vesicoureteral reflux (VUR) largely conducted in developed societies, challenge the validity of established management principles.The backflow of urine into the upper tracts is not a disease by itself, but part of a clinical spectrum which is heterogeneous and has low risk and high risk categories. Management, medical, endoscopic or surgical have to take into consideration the risk to the child not only from the reflux but also from renal dysplasia and voiding dysfunction which are important risk factors for end stage renal disease (ESRD) and perpetuation of VUR respectively. Social factors, parental choices and access to medical treatment are also important in choosing therapy.

Prevención de Enfermedad Renal Progresiva: Detección de Hipertensión Arterial Oculta en Niños y Adolescenes con Nefropatía por Reflujo / Prevention of Progressive Renal Disease. Detection of Occult Arterial Hypertension in Children and Adolescents with Reflux Nephorapathy

Se define nefropatía por reflujo (NR) a la presencia de cicatrices renales por reflujo vesicoureteral e infecciones urinarias. La hipertensión arterial (HTA) es una de las complicaciones a largo plazo de la nefropatía por reflujo. Se evaluó la incidencia de HTS oculta y las alteraciones de la función renal en niños y adolescentes normotensos de consultorio y su correlación con grado de RVU y escaras en DMSA. La incidencia de HTA oculta fue 12.5 por ciento y de pre hipertensión 7.5 por ciento. La proteinuria/24 horas fue significativa en 11.4 por ciento de los pacientes. No se encontró correlación entre las variables estudiadas, el grado de RVU y cicatrices. La alta prevalencia de HTA nocturna, reafirman la importancia del MAPA. El hallazgo de HTA oculta y de proteinuria en esta población de riesgo con disminución de masa nefronal, permite el tratamiento precoz de dos de los factores que aceleran la progresión de la enfermedad renal

Vesicoureteric reflux deterioration in monozygotic twins.

Primary vesicoureteric reflux (VUR) is the most common inherited structural urinary tract disorder, conforming closely to autosomal dominant transmission. A pair of monozygotic siblings is described exhibiting a remarkably parallel clinical course. VUR grade II was diagnosed in girl A during urinary tract infection at the age of 2 yr; screening of her asymptomatic sister (girl B) revealed the same. Renal cortical scintigraphy unveiled unilateral hypo-dysplasia in both the twins. Despite trimethoprime-sulfamethoxazole prophylaxis, infection recurred in girl A after 7 months, while girl B had a first episode 2 months later that prompted regimen switch to nitrofurantoin. Follow-up at the age of 4 depicted bilateral reflux deterioration; an urodynamics study that followed revealed functional bladder instability in both girls and the oral antispasmodic oxybutynin was initiated with good results. Evaluation for reflux should be prompt in infants with urinary infection. Patient siblings display a higher relative reflux risk, being highest in identical twins. Heredity issues, the impact of age and dysfunctional voiding in the clinical course, and the contribution of nuclear medicine in VUR management are discussed.

Hidronefrosis prenatal en doble sistema excretor / Hidronefrosis prenatal in double system excretor

Con la introducción del ultrasonido materno-fetal en el seguimiento sistemático del embarazo normal se detectan anomalías congénitas en el 1 por ciento de los fetos, el 20 por ciento de las cuales corresponden al tracto urinario. Se realizó el estudio de recién nacidos y lactantes con hidronefrosis prenatal, cuyos ultrasonidos materno-fetales demostraron la presencia de un doble sistema excretor. Para este propósito todos los recién nacidos y lactantes con hidronefrosis detectada prenatalmente, y doble sistema excretor diagnosticado antes o después del nacimiento, fueron seguidos mediante ultrasonografía renal evolutiva, uretrocistografía miccional, gammagrafía estática o dinámica y, en algunos casos, mediante urograma excretor. Hallamos doble sistema excretor en 7 de los 182 pacientes (3,8 por ciento) con anormalidades del tracto urinario diagnosticadas antes del nacimiento. El diagnóstico fue prenatal solo en uno de los fetos (31 semanas de embarazo). La dilatación hidronefrótica fue ligera en dos fetos y grave en cinco. La hidronefrosis obedeció a diferentes causas. Se realizó nefrectomía polar superior en los casos de ectopia ureteral y de uréter superior obstruido, reimplantación en un ureterocele, y en otro se comprobó la ruptura espontánea mediante endoscopia. Los restantes pacientes se trataron sintomáticamente. La hidronefrosis detectada antes del nacimiento mediante ultrasonografía materno-fetal puede estar asociada a un doble sistema excretor. La dilatación hidronefrótica asociada a un doble sistema puede deberse a diferentes causas, y es necesario estudiar cuidadosa y sistemáticamente a estos niños y tratarlos adecuadamente, porque cada uno puede necesitar una conducta diferente.

With the introduction of the maternofetal ultrasound in the systematic follow-up of normal pregnancy, congenital anomalies are detected in 1 percent of the fetuses, 20 percent of which correspond to the urinary tract. The newborns and infants with prenatal hydronephrosis were studied. The maternofetal ultrasound showed a double excretory system. To this end, all the newborns and infants with prenatally detected hydronephrosis and double excretory system diagnosed before or after birth were followed up by evolutive renal ultrasonography, micturition urethrocystography, static or dynamic scintigraphy and, in some cases, by excretory urogram. Double excretory system was found in 7 of the 182 patients (3.8 percent) with abnormalities of the urinary tract diagnosed before birth. Diagnosis was prenatal in just one of the fetuses (31 weeks of pregnancy). Hydronephrotic dilatation was mild in two fetuses and severe in five. Hydronephrosis had different causes. Upper polar nephrectomy was performed in those cases of ureteral ectopy and obstructed upper ureter, reimplantation in one ureterocele, whereas in another it was confirmed the spontaneous rupture by endoscopy. The rest of the patients were symptomatically treated. The hydronephrosis detected before birth by maternofetal ultrasonography may be associated with a double excretory system. Hydronephrotic dilatation associated with a double excretory system may have different causes, and it is necessary to study carefully and systematically these children and to treat them adequately, since each of them may need a different conduct.