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Objectives The aim of this retrospective study is to describe the importance of serum creatinine levels for the long-term renal outcome in cases of posterior urethral valve. Methods Records of 94 patients who underwent cystoscopic valve ablation were evaluated retrospectively. Demographic variables, radiologic findings, and serum creatinine levels were recorded. Patients were grouped according to the serum creatinine levels in the first month of life. Twenty-four patients' serum creatinine levels were found to be above 1 mg/dL in group 1 and ≤1 mg/dL in 70 patients in group 2. Results The initial findings of 74 patients were as follows: pyelonephritis in 24 (32.43%) patients, hydronephrosis in 20 (27.02%), and inability to urinate in 18 (24.32%). Prenatal hydronephrosis was present in 36 cases (38.29%). Of the 92 voiding cystograms, 53.26% had findings that included vesicoureteral reflux. The mean serum creatinine levels of the patients in group 1 increased above 1 mg/dL in the 2nd year, the significant difference between the two groups lasted up to 7 years of age, and no significant difference was observed at the age of 7. The mean serum creatinine levels of the patients in group 2 were observed to increase above 1 mg/dL by the 10th year. Conclusions In patients with posterior urethral valves, nadir creatinine, especially higher than 1 mg/dL, should be considered as high risk for end-stage renal disease. Therefore, clinicians should improve awareness about early detection and treatment of posterior urethral valves, and these patients should be monitored as early as possible for the risk of chronic kidney disease.

Posterior urethral valve (PUV) rarely causes bladder rupture. We experienced hydronephrosis due to ureteral obstruction after the natural repair of a ruptured bladder in a fetus with PUV. Fetal ascites and oligohydramnios were diagnosed at 26 weeks' gestational age. While we followed up with ultrasonography, we regularly removed the fetal ascites via abdominal puncture, injecting warm saline instead of amniotic fluid. At 35 weeks' gestational age, the infant was diagnosed with severe bilateral hydronephrosis, absent of ascites and oligohydramnios. Therefore, a Caesarean section was performed. After birth, the infant was diagnosed with hydronephrosis due to ureteral obstruction after the natural repair of a ruptured bladder associated with PUV. Thus, a ruptured bladder in a fetus with PUV that has naturally repaired should be closely monitored via ultrasonography for hydronephrosis due to ureteral obstruction.

Objective To report our 12-year experience with endoscopic management of patients with concomitant anterior and posterior urethral valves. Methods We retrospectively reviewed the charts of patients referred to us for management of urethral valves from 2000 to 2012 to find cases with concomitant anterior and posterior valves. The diagnosis of valves was first suspected on voiding cystourethrography and confirmed by urethrocystoscopy. We collected available data on patients' age at diagnosis, clinical presentations, ultrasound and urodynamic findings, and surgical treatments. The final outcome at last follow up was also recorded. Results From 38 cases with anterior urethral valve, six (15.8%) presented concomitant anterior and posterior valves. The age at diagnosis in these patients ranged from antenatal diagnosis to 13 years. Initial presenting symptoms were recurrent urinary tract infection, incontinence, urosepsis and poor urinary stream. All valves were ablated by transurethral fulguration/resection using small-sized urethrocystoscopes. Among those with concomitant anterior and posterior valves, four patients had vesicoureteral reflux at presentation that resolved in two patients after valve ablation. One patient progressed to renal failure and required dialysis. Bladder hypercontractility and detrusor overactivity were the main urodynamic patterns in these patients. Conclusions Concomitant anterior and posterior valves seem to be more prevalent than previously assumed, and might be missed on initial assessment. Oblique view voiding cystourethrography with full-length delineation of the urethra is of paramount diagnostic importance when obstruction is suspected. A meticulous urethrocystoscopy should follow for confirming the diagnosis and endoscopic ablation/resection of the valves.

Objective Fetal serum β2-microglobulin has been shown to predict postnatal renal outcome in cases of fetal obstructive uropathy. We assessed the value of serial measurements of fetal serum β2-microglobulin in the prediction of postnatal renal outcome. Methods We retrospectively studied renal outcome in 42 fetuses with bilateral or low urinary tract obstruction that had fetal blood sampling on at least two occasions to assay serum levels of β2-microglobulin. Amniotic fluid volume at the time of each sampling was recorded. We classified renal outcome as either favorable (when postnatal renal function was normal) or adverse (when postnatal chronic renal failure occurred or when renal dysplasia at autopsy was noted). A β2-microglobulin cut-off of 5 mg/L and amniotic fluid index of 5 cm were used to predict postnatal renal outcome. Results Renal outcome was adverse in 28 cases and favorable in 14. In 12 (28.6%) cases, fetal serum β2-microglobulin concentration differed between the first and last measurement. Prediction of postnatal renal outcome was correct in 11 of these cases based on the last β2-microglobulin measurement. The sensitivity of β2-microglobulin in predicting renal outcome was significantly higher (P = 0.005) when using the last rather than the first measurement (96.4% vs 64.3%), with similar specificity for both measurements (85.7% vs 78.6%, non-significant). The sensitivity of amniotic fluid volume was also significantly higher (P = 0.005) when using the last rather than the first measurement (75.0% vs 35.7%), with similar specificity for both measurements (64.3% vs 71.4%, non-significant). Conclusion Sequential measurement of serum β2-microglobulin, performed for adverse ultrasound findings, such as renal parenchymal abnormality or decreasing amniotic fluid volume, predicts postnatal renal outcome more accurately than does a single assay. This may be due to possible worsening of renal injury with increasing duration of urinary tract obstruction. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Vascular complications are important causes of allograft loss in renal transplantation. A two and a half-month-old boy was diagnosed with posterior urethral valve and progressed to end-stage renal disease at eight yr of age. During the HD period, a central venous catheter was replaced three times for repeated thrombosis. The boy was found to be homozygous for FVL and heterozygous for both MTHFR (C677T) and PAI. At the age of 12, renal transplantation was performed from a deceased donor. Postoperative anticoagulation therapy was initiated with continuous intravenous administration of heparin at the dose of 10 IU/kg/h. HD was performed for the first three days. By the fourth day of transplantation, his urine output had increased gradually. Heparin infusion was continued for 18 days during hospitalization at the same dosage. Thereafter, he was discharged with LMWH. On the third month after transplantation, his serum creatinine level was 1.1 mg/dL and eGFR was 75.7 mL/min/1.73 m(2). He has still been using LMWH, and his eGFR was 78.7 mL/min/1.73 m(2) eight months after transplantation. Postoperative low-dose heparin treatment is a safe strategy for managing a patient with multiple thrombotic risk factors.

Objective To evaluate prenatal sonographic signs that distinguish male fetuses with posterior urethral valves (PUV) from those with vesicoureteral reflux (VUR). Methods Antenatal data were retrospectively retrieved from all consecutive women delivering between 2003 and 2012 of a male newborn with a postnatal diagnosis of PUV or VUR. Prenatal parameters included fetal bladder characteristics, identification of a dilated posterior urethra, and change in shape and size in the fetal renal pelvis or ureter. Results 136 women gave birth to a male newborn with a postnatal diagnosis of PUV (n = 49) or VUR (n = 87). The presence of posterior urethral dilatation (21 [42.9%] fetuses versus 0 [0%], p = 0.000), a thickened fetal bladder wall (37 [75.5%] versus 4 [4.6%], p = 0.000) and anhydramnios (14 [28.6%] versus 0, p = 0.000) were strongly associated with the postnatal diagnosis of PUV. Change in shape and size in the fetal renal pelvis or ureter was observed in 15 (17.2%) of 87 children with VUR versus 1 (2.0%) out of 49 with PUV (p = 0.010). Conclusions Prenatal ultrasound may differentiate with reasonable accuracy male fetuses with a postnatal diagnosis of PUV from those with VUR.

The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isolated PUV to identify novel copy number variants (CNVs). We identified 56 cases of isolated PUV from all live-births in New York State (1998-2005). Samples were genotyped using Illumina HumanOmni2.5 microarrays. Autosomal and sex-linked CNVs were identified using PennCNV and cnvPartition software. CNVs were prioritized for follow-up if they were absent from in-house controls, contained ≥ 10 consecutive probes, were ≥ 20 Kb in size, had ≤ 20% overlap with variants detected in other birth defect phenotypes screened in our lab, and were rare in population reference controls. We identified 47 rare candidate PUV-associated CNVs in 32 cases; one case had a 3.9 Mb deletion encompassing BMP7. Mutations in BMP7 have been associated with severe anomalies in the mouse urethra. Other interesting CNVs, each detected in a single PUV case included: a deletion of PIK3R3 and TSPAN1, duplication/triplication in FGF12, duplication of FAT1--a gene essential for normal growth and development, a large deletion (>2 Mb) on chromosome 17q that involves TBX2 and TBX4, and large duplications (>1 Mb) on chromosomes 3q and 6q. Our finding of previously unreported novel CNVs in PUV suggests that genetic factors may play a larger role than previously understood. Our data show a potential role of CNVs in up to 57% of cases examined. Investigation of genes in these CNVs may provide further insights into genetic variants that contribute to PUV.

Objectives To compare outcomes of renal transplantation (RTx) in children with end-stage renal disease (ESRD) resulting from lower urinary tract dysfunction (LUTD) vs other causes. Patients and Methods A database of children (

Bladder rupture in a fetus is a rare occurrence. We report the first neonatal case of laparoscopic repair for prenatally diagnosed bladder rupture. A male neonate, who had presented with megacystis, bilateral hydronephrosis and hydroureters since 27 weeks-of-gestation, was delivered by emergency cesarean section because of sudden collapse of the bladder with massive ascites at 37 weeks-of-gestation. The diagnosis of bladder rupture was made by retrograde urethrocystography. Laparoscopic repair was carried out subsequent to urethral catheterization. Intraoperatively, laceration from the left side of the bladder dome to the posterior wall was observed. This tear was successfully repaired using a two-layer interrupted suture without any postoperative complications. Laparoscopic repair could be the treatment of choice for bladder rupture, because it has the advantage of closure of the perforated site more certainly than bladder decompression alone, and with better cosmesis than open repair.

The aim of this study was to detect possible risk factors for UC and UTI following pediatric renal Tx and effect of these complications on outcome. One hundred and eight children who underwent living donor Tx between 2009 and 2015 were retrospectively included. Extraperitoneal approach was used with stented tunneled extravesical procedure. Mean recipient age was 9.89 ± 3.46 years while mean weight was 25.22 ± 10.43 kg. Seventy-three (67.6%) recipients were boys while 92 (85.2%) were related to donors. Urological causes of ESRD were present in 33 (30.6%) recipients (14 [13%] posterior urethral valve, 16 [14.8%] VUR, and 3 [2.8%] neurogenic bladder). Augmentation ileocystoplasty was performed in 9 (8.3%) patients. Mean follow-up was 39.3 ± 17.33 months. UC were detected in 10 (9.3%) children (leakage 4 [3.7%], obstruction 3 [2.8%], and VUR 3 [2.8%]) while UTIs were reported in 40 (37%) children. After logistic regression analysis, UC were significantly higher in children with cystoplasty (44.4% vs 6.1%; P = .001). UTIs were significantly higher in girls (51.4% vs 30.1%; P = .001) and in children with urological causes of ESRD (51.5% vs 30.7%; P = .049). UC and UTI were not significantly associated with increased graft loss or mortality. UC were significantly higher in children with cystoplasty while UTIs were significantly higher in girls and children with urological causes of ESRD. Presence of UC did not affect the rate of graft loss or mortality due to its early detection and proper management.

To review new challenges of fetal therapy in Japan after the establishment of four existing fetal therapies as standard prenatal care with National Health Insurance coverage over the past 20 years.Reported studies and our current research activities related to four fetal therapies newly performed in Japan were reviewed.Fetoscopic endoluminal tracheal occlusion (FETO) for congenital diaphragmatic hernia (CDH) aims to occlude the trachea using a detachable balloon to promote lung growth. Following the recent successful completion of an international randomized controlled trial for CDH, in which we participated, FETO is offered for severe left CDH to perform balloon insertion at 27-29 weeks and removal at 34 weeks of gestation. Fetal cystoscopy (FC) for low urinary tract obstruction was introduced to overcome the demerits of vesicoamniotic shunting. FC may provide a proper diagnosis by visual observation of the urethra and physiological treatment of the posterior urethral valve. The effectiveness of open fetal surgery for myelomeningocele (MMC), direct surgery with laparotomy and hysterotomy, for ameliorating hindbrain herniation and the motor function was demonstrated, but it was also associated with substantial maternal and fetal risks. Fetal aortic valvuloplasty (FAV), ultrasound-guided fetal aortic balloon dilation for critical aortic stenosis with evolving hypoplastic left heart syndrome may improve left heart development and maintain biventricular circulation. Feasibility and safety studies for FC, MMC open fetal surgery, and FAV are currently ongoing.Clinical research on FETO, FC, MMC open fetal surgery, and FAV has proceeded with careful preparations in Japan.

Posterior urethral valve (PUV) is the most common congenital cause of bladder outflow obstruction in male infants. Despite timely treatment, renal damage can still occur in the long-term leading to chronic kidney disease (CKD).A retrospective review of all PUV patients in a single tertiary institution between April 1998 and July 2019 was conducted to analyze their presentations, management and outcomes. Long-term renal function, radiologic scans and somatic growth were evaluated.A total of 16 patients were included in this study. Two patients who defaulted all follow-ups were excluded. Seven patients (43.7%) presented in the antenatal period; four patients (25%) presented in the neonatal period and five patients (31.3%) presented in the post-neonatal period. Primary transurethral fulguration of valves was done in 13 patients, while three had vesicostomies as the primary procedure. Three patients had associated anterior urethral valves (AUV), which were treated endoscopically. Nine boys had additional procedures for diversion and undiversion, VUR, non-functioning kidney and clean intermittent catheterization. Ten patients had urodynamic studies performed, of which eight patients received anticholinergic therapy. Eleven patients had DMSA scans, of which three patients had a normal study and eight patients showed unilateral reduced function. Four patients were diagnosed with CKD on long-term follow-up duration over 5 years. All patients were shown to have good somatic growth.Patients with PUV can suffer from complications despite primary treatment. In our small cohort, a quarter of our patients developed CKD on follow-up. Thus, patients need long-term follow-up to optimize bladder and renal function.

Le traitement au laser par foetoscopie est utilise pour la coagulation d'anastomoses arterio-veineuses dans le cadre de syndrome transfuseur-transfuse. Actuellement, certaines malformations peuvent etre une indication a ce traitement comme le syndrome des bandes amniotiques, le choriangiome, l'obstruction de l'uretre, le kyste sacro-coccygien et les masses pulmonaires. Ces pathologies peuvent etre letales sans intervention et ce traitement, encore experimental, pourrait etre propose dans ces cas. Il s'agit d'une meta-analyse et revue systematique de la litterature a l'aide de « PubMed », « Medline » et « Web of Science » dans laquelle nous avons recense tous les cas publies de traitement par laser durant la periode foetale depuis 1980. Cinq groupes de pathologie peuvent beneficier de ce traitement et sont decrits separement. Le syndrome des bandes amniotiques peut engendrer une amputation du membre atteint par compression induisant une ischemie ou un deces foetal si cette bande atteint le cordon ombilical. De larges choriangiomes, teratomes sacrococcygiens ou masses pulmonaires peuvent mener a un hydrops foetal par compression ou « vol vasculaire » menant dans les cas les plus severes a la perte foetale. Des valves de l'uretre posterieur creent une obstruction induisant une megavessie avec des repercussions renales ainsi qu'une hypoplasie pulmonaire. Le pronostic de ces differentes pathologies peut etre fatal et les options therapeutiques sont limitees. Dans certains cas, la therapie au laser par foetoscopie peut changer ce pronostic. Encore experimentale, cette technique montre des resultats prometteurs. Le taux de reussite et le taux de survie dans les differentes categories est encore perfectible. L'amelioration devra se faire aussi bien au niveau de l'indication operatoire et de la selection des cas, de la technique et du materiel que de l'experience des operateurs. Cette technique peut offrir un espoir de survie pour des foetus tres certainement condamnes. Cette etude est basee essentiellement sur des petites series de cas ou de cas unique, les resultats doivent donc etre analyses avec prudence car des biais de report ou au niveau des investigateurs ne peuvent pas etre exclus. La prise en charge de tels cas doit se faire dans un centre de reference, la de ision d'intervenir devrait etre multidisciplinaire et les parents bien informes du pronostic. -- Fetoscopic coagulation of placental anastomoses is the treatment of choice for severe twin-to-twin transfusion syndrome. In the present day, fetal laser therapy is also used to treat amniotic bands, chorioangiomas, sacrococcygeal teratomas, lower urinary tract obstructions and chest masses, all of which will be reviewed in this article. Amniotic band syndrome can cause limb amputation by impairing downstream blood flow. Large chorioangiomas (>4 cm), sacrococcygeal teratomas or fetal hyperechoic lung lesions can lead to fetal compromise and hydrops by vascular steal phenomenon or compression. Renal damage, bladder dysfunction and lastly death because of pulmonary hypolasia may be the result of megacystis caused by a posterior urethral valve. The prognosis of these pathologies can be dismal, and therapy options are limited, which has brought fetal laser therapy to the forefront. Management options discussed here are laser release of amniotic bands, laser coagulation of the placental or fetal tumor feeding vessels and laser therapy by fetal cystoscopy. This review, largely based on case reports, does not intend to provide a level of evidence supporting laser therapy over other treatment options. Centralized evaluation by specialists using strict selection criteria and long-term follow-up of these rare cases are now needed to prove the value of endoscopic or ultrasound-guided laser therapy.