In utero myelomeningocele repair: The natural history of patients with incontinent pattern (sphincteric deficiency: leakage below 40 CMH20).

INTRODUCTION: Since 2011 we have been following prospectively myelomeningocele patients treated in utero with particular interest to patients with sphincter weakness/deficiency. We investigated the changes of bladder pattern and upper urinary tract with time in children who underwent in utero repair and had low-pressure incontinence based on urodynamic evaluation (UE). MATERIALS AND METHODS: From the 120 patients in our database, 117 had at least one UE. Of these, 30 were classified as incontinent when leaking at low pressure (<40 cmH20). We reviewed clinical evaluation, urinary tract ultrasound, voiding cystourethrography (VCUG), and other UE parameters at first and last evaluation. RESULTS: We found 30 cases (25.64%). Mean age at initial evaluation was 4.97 months followed by UE done initially at mean age of 5.73 months. Follow-up was 28.4 months. Febrile urinary tract infection has been found in four patients (13.3%), hydronephrosis in four patients, and bladder neck thickening in three (10%). The VCUG showed vesicoureteral reflux in three cases (3/27, 11.1%). A total of 90% of patients had detrusor overactivity with mean maximum detrusor pressure (33.37 cmH20). Only 16.67% of patients showed normal bladder capacity. From the 30 patients, 23 had at least two UE. We noticed a change of bladder pattern as follows: six patients became of high-risk pattern, five normal, and two with underactive bladder pattern. The average interval between the first and last UE was 25.5 months (median: 15 months). CONCLUSION: We concluded that 43.47% of patients with low DLPP have kept the incontinent pattern. If the initial LPP was below 30 cmH20, 70% remained with the incontinet pattern.

Clinical Outcomes of the Upper Urinary Tract after Ureteral Clipping for Treatment of Low Functioning or Nonfunctioning Renal Moieties.

PURPOSE: A growing body of evidence suggests that it is safe to ligate the ureter of poorly functioning renal moieties during renal transplantation. We present clinical outcomes and data on hydronephrosis progression in pediatric cases associated with ectopic ureters and obstructive ureteroceles. MATERIALS AND METHODS: We prospectively collected data for 35 consecutive patients (23 females and 12 males) who underwent ureteral clipping between February 2011 and August 2016. Patients were divided into 4 groups consisting of 1) duplex system with ectopic ureter (45.7%), 2) duplex system with a large ureterocele (11.4%), 3) other duplex system (8.6%) and 4) single system kidneys (34.3%). Patients were followed for clinical outcomes and hydronephrosis trends. Comparisons included preoperative and postoperative anteroposterior diameter, maximal ureteral diameter and ureterocele size. RESULTS: Median age at surgery was 59 months (IQR 11 to 120, range 5 to 216). Median ± SD operative time was 108.9 ± 31.1 minutes (range 20 to 180) and median length of stay was 7.5 hours (IQR 6 to 19, range 5 to 336). Immediate resolution of urinary incontinence was observed in all 16 ectopic ureter cases. After a median ± SD followup of 20.8 ± 13.8 months (IQR 8.5 to 30, range 6 to 50) 97.2% of the patients remained asymptomatic. No significant differences were observed between initial and last anteroposterior diameter measurements except in group 1 (p = 0.001). All ureteroceles demonstrated a significant decrease in median ± SD size after clipping (from 2.7 ± 0.41 to 0.53 ± 0.92 cm, p = 0.003). Pyonephrosis developed in 1 patient, who underwent laparoscopic nephrectomy. CONCLUSIONS: Ureteral clipping appears to be a reasonable, safe and effective option for pediatric patients in the reported settings, with the potential to be simpler and quicker than extirpative or reconstructive procedures.

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, facial dysmorphisms, genitourinary, skeletal, neurological, and cardiac defects. It was recently revealed that Schinzel-Giedion syndrome is caused by de novo mutations in SETBP1, but there are few reports of this syndrome with molecular confirmation. We describe two unrelated Brazilian patients with Schinzel-Giedion syndrome, one of them carrying a novel mutation. We also present a review of clinical manifestations of the syndrome, comparing our cases to patients reported in literature emphasizing the importance of the facial gestalt associated with neurological involvement for diagnostic suspicion of this syndrome.

Antegrade pressure measurement of urinary tract in children with persistent hydronephrosis.

INTRODUCTION: Dilation of urinary tract occurs without the presence of obstruction. Diagnostic methods that depend on renal function may elicit mistaken diagnosis. Whitaker (1973) proposed the evaluation of urinary tract pressure submitted to constant flow. Other investigators proposed perfusion of renal pelvis under controlled pressure, making the method more physiological and reproducible. The objective of the present study was to evaluate the results of the anterograde pressure measurement (APM) of the urinary tract of children with persistent hydronephrosis after surgery suspected to present persistent obstruction. MATERIALS AND METHODS: Along 12 years, 26 renal units with persistent hydronephrosis after surgery (12 PUJ and 14 VUJ) were submitted to evaluation of the renal tract pressure in order to decide the form of treatment. Previous radionuclide scans with DTPA, intravenous pyelographies and ultrasounds were considered undetermined in relation to obstruction in 10 occasions and obstructive in 16. APM was performed under radioscopy through renal pelvis puncture or previous stoma. Saline with methylene blue + iodine contrast was infused under constant pressure of 40 cm H2O to fill the urinary system. The ureteral opening pressure was measured following the opening of the system and stabilization of the water column. RESULTS: Among the 10 cases with undetermined previous diagnosis, APM was considered non-obstructive in two and those were treated clinically and eight were considered obstructive and were submitted to surgery. Among the 16 cases previously classified as obstructive, nine confirmed obstruction and were submitted to surgery. Seven cases were considered non-obstructive, and were treated clinically, with stable DMSA and hydronephrosis. CONCLUSIONS: APM avoided unnecessary surgery in one third of the cases and was important to treatment decision in 100 %. We believe that this simple test is an excellent diagnostic tool when selectively applied mainly in the presence of functional deficit.

Antegrade pressure measurement of urinary tract in children with persistent hydronephrosis

INTRODUCTION: Dilation of urinary tract occurs without the presence of obstruction. Diagnostic methods that depend on renal function may elicit mistaken diagnosis. Whitaker (1973) proposed the evaluation of urinary tract pressure submitted to constant flow. Other investigators proposed perfusion of renal pelvis under controlled pressure, making the method more physiological and reproducible. The objective of the present study was to evaluate the results of the anterograde pressure measurement (APM) of the urinary tract of children with persistent hydronephrosis after surgery suspected to present persistent obstruction. MATERIALS AND METHODS: Along 12 years, 26 renal units with persistent hydronephrosis after surgery (12 PUJ and 14 VUJ) were submitted to evaluation of the renal tract pressure in order to decide the form of treatment. Previous radionuclide scans with DTPA, intravenous pyelographies and ultrasounds were considered undetermined in relation to obstruction in 10 occasions and obstructive in 16. APM was performed under radioscopy through renal pelvis puncture or previous stoma. Saline with methylene blue + iodine contrast was infused under constant pressure of 40 cm H2O to fill the urinary system. The ureteral opening pressure was measured following the opening of the system and stabilization of the water column. RESULTS: Among the 10 cases with undetermined previous diagnosis, APM was considered non-obstructive in two and those were treated clinically and eight were considered obstructive and were submitted to surgery. Among the 16 cases previously classified as obstructive, nine confirmed obstruction and were submitted to surgery. Seven cases were considered non-obstructive, and were treated clinically, with stable DMSA and hydronephrosis. CONCLUSIONS: APM avoided unnecessary surgery in one third of the cases and was important to treatment decision in 100%. We believe that this simple test is an excellent diagnostic tool when selectively applied mainly in the presence of functional deficit.

Increased urinary N-acetyl-beta-D-glucosaminidase activity in children with hydronephrosis.

OBJECTIVE: Hydronephrosis leads to deterioration of renal function. As urinary N-acetyl-beta-D-glucosaminidase (U-NAG) activity is considered a sensitive marker of renal tubular impairment, our aim was to measure U-NAG in children with hydronephrosis and to look for a relationship among selected clinical parameters. MATERIALS AND METHODS: We studied 31 children (22 boys and 9 girls, mean age 2.3 +/- 2.5 years) with hydronephrosis grade 1-4 that had U-NAG/creatinine ratio (U-NAG/Cr) measured. RESULTS: The U-NAG/Cr was significantly higher in patients with hydronephrosis compared to reference data (p = 0.002). There was no difference in U-NAG/Cr between children with unilateral and bilateral hydronephrosis (p = 0.51). There was no significant difference in U-NAG/Cr between children with grades 1-3 (pooled data) and grade 4, respectively (p = 0.89). There was no correlation between U-NAG/Cr and the grade of hydronephrosis (r = 0.01). CONCLUSIONS: U-NAG/Cr is increased in children with hydronephrosis grade 1-4, and there is no relationship with the grade of hydronephrosis. U-NAG is a useful marker of renal tubular dysfunction, however its relationship with the degree of kidney damage in patients with hydronephrosis should be considered as doubtful.

Increased urinary n-acetyl-beta-d-glucosaminidase activity in children with hydronephrosis

OBJECTIVE: Hydronephrosis leads to deterioration of renal function. As urinary N-acetyl-beta-D-glucosaminidase (U-NAG) activity is considered a sensitive marker of renal tubular impairment, our aim was to measure U-NAG in children with hydronephrosis and to look for a relationship among selected clinical parameters. MATERIALS AND METHODS: We studied 31 children (22 boys and 9 girls, mean age 2.3 ± 2.5 years) with hydronephrosis grade 1-4 that had U-NAG/creatinine ratio (U-NAG/Cr) measured. RESULTS: The U-NAG/Cr was significantly higher in patients with hydronephrosis compared to reference data (p = 0.002). There was no difference in U-NAG/Cr between children with unilateral and bilateral hydronephrosis (p = 0.51). There was no significant difference in U-NAG/Cr between children with grades 1-3 (pooled data) and grade 4, respectively (p = 0.89). There was no correlation between U-NAG/Cr and the grade of hydronephrosis (r = 0.01). CONCLUSIONS: U-NAG/Cr is increased in children with hydronephrosis grade 1-4, and there is no relationship with the grade of hydronephrosis. U-NAG is a useful marker of renal tubular dysfunction, however its relationship with the degree of kidney damage in patients with hydronephrosis should be considered as doubtful.

Diagnóstico prenatal de hidronefrosis y seguimiento postnatal en la ciudad de Cali entre 1987 y 1995

Se presenta la revisión retrospectiva de 90 pacientes con hidronefrosis prenatal captados en el Hospital Universitario del Valle Evaristo García, Clínica Rafael Uribe Uribe del instituto de Seguros Sociales, Hospital Infantil Club Noel y en los consultorios particulares de tres nefrólogos pediatras de la ciudadde Cali entre el 1o. de enero de 1987 y el 30 de junio de 1995. Se revisaron las historias clínicas y los estudios imagenológicos durante el período prenatal y el seguimiento postnatal. Resultados: se estudiaron 90 pacientes con 127 unidades renales comprometidas. El promedio de edad materna es de 28 años y el 50 por ciento de ellas son primigestantes. La edad media en que se hizo el diagnóstico fue a las 30 mas o menos 5 semanas de gestación (20-40 semanas). Hubo predominio del sexo masculino en el 78 por ciento de los casos. Los diagnósticos prenatales más frecuentes fueron hidronefrosis unilateral (58 por ciento), hidronefrosis bilateral (26 por ciento) y riñón displásico multiquístico (14 por ciento). Luego de la evaluación postnatal con ecografía y cistouretrografía miccional cíclica, y estudios complementarios cuando se consideró necesario, los diagnósticos finales fueron hidronefrosis no obstructiva (43 por ciento), reflujo vesicoureteral (22 por ciento), hidronefrosis obstructiva (13 por ciento), riñón displásico multiquístico (8 por ciento), doble sistema colector (5 por ciento), otros (megauréter, secuencia de Potter, ectopia renal cruzada, ureterocele y divertículo paraureteral) (6 por ciento) y valvas de uretra posterior (3 por ciento). Los pacientes fueron discutidos en la Clínica de Nefro-Urología para definir conducta. Veintinueve pacientes (32 por ciento) requirieron corrección quirúrgica (12 pieloplastias, 11 reimplantes ureterales, tres polectomías, una fulguración de valvas, una vesicostomía y una nefrectomía). La función renal de los pacientes con hidronefrosis obstructiva se normalizó después de la cirugía. En el 23.3 por ciento de los casos (21 pacientes) se presentó infección urinaria en la fase inicial del estudio. En 70 pacientes se evaluó la función renal en el momento de entrada al estudio, siendo normal en el 96 por ciento; estaba disminuida en los dos pacientes con valvas de uretra posterior y en un paciente con reflujo vésico-ureteral grado IV bilateral.

Fisiopatología y manejo del desequilibrio hidroelectrolítico y nefrología para el pediatra

Treinta y cuatro pacientes de 120 con hidronefrosis (28.3 por ciento) tenían patologías significativas en las vías urinarias. La hidronefrosis desapareció espontáneamente en 37 pacientes de 120 (30.9 por ciento) entre un mes y 23 meses, con un promedio de siete meses. La hidronefrosis persistía en 49 pacientes de 120 (40.8 por ciento) al último control, pero con cistografías normales y gamagrafías normales o funcionales. Un ultrasonido renal negativo en la primera semana de vida no excluye el diagnóstico de hidronefrosis. El reflujo vesicoureteral puede estar presente con cualquier grado de hidronefrosis y su severidad no se correlaciona con el grado de ésta. Todo paciente con diagnóstico pre o postnatal de hidronefrosis justifica una cistografía miccional y debe ponerse en profilaxis antibiótica hasta tanto el reflujo vesicoureteral no haya sido descartado. Grados severos de hidronefrosis, en general, se correlacionan con patología subyacente. Grados menos severos, sin embargo, no la descartan. Todos los pacientes deben ser seguidos hasta que se tengan dos ultrasonidos normales

Himen imperforado como causa de hematometrocolpos e hidronefrosis / Imperforate Hymen causing hematocolpometra and hydronephrosis

El himen imperforado es una malformación congénita poco frecuente, que generalmente se descubre al iniciarse la menarca, las menstruaciones sucesivas ocasionan hematometrocolpos, dando diversas manifestaciones clínicas. Informamos el caso clínico de una adolescente que presentó himen imperforado con salpingohematometrocolpos manifestándose con dolor abdominal crónico, estreñimiento, vómito, disuria, tenesmo vesical, retención aguda de orina, hidronefrosis y tumor pélvico-abdominal. Un diagnóstico temprano con evacuación de la sangre acumulada evitará la hematometra y el hematosalpinx reduciéndose el riesgo de endometriosis pélvica y el futuro de la fertilidad

Persistent tubular resistance to aldosterone in infants with congenital hydronephrosis corrected neonatally.

Renal function of 18 infants who had undergone surgery in the neonatal period because of severe congenital hydronephrosis was followed up for 5 to 36 months (mean +/- SD 21 +/- 10 months). In all cases the diagnosis was made prenatally by sonography and confirmed at birth by intravenous urography. Creatinine clearance developed normally in all the children. Eight had a reduction in maximal urinary concentrating ability after intranasal DDAVP; this defect was transient and resolved after 4 to 5 months in all but one child, in whom it persisted. However, other tubular abnormalities were present. Throughout the observation period, patient serum potassium concentrations were significantly higher than normal, paralleled by a significant increase in plasma aldosterone concentration but with normal excretion fraction of sodium and potassium. There were no disturbances of acid-base balance. These findings may be accounted for by a persistent partial reduced sensitivity of the distal tubule to the action of aldosterone despite normal renal function. This alteration is usually mild, but may constitute a persistent metabolic risk despite successful surgical intervention.

Agenesia sacral: classificaçäo, comportamento urodinâmico e razöes de seu diagnóstico tardio / Sacral agenesis: classification, urodynamic behavior and causes of its late diagnosis

Trinta e quatro pacientes com agenesia sacral foram examinados de 1954 a 1983, excluindo-se os casos de meningomielocele. Cinco padröes reconhecíveis e consistentes de malformaçäo óssea foram identificados, constituindo novo critério de classificaçäo para esta patologia. Exame urodinâmico foi realizado em dez dos pacientes citados. Sua avaliaçäo e resposta ao tratamento säo analisados, tentando-se determinar e estabelecer as possíveis causas do diagnóstico tardio e suas conseqüências sobre o trato urinário superior (AU) &P