OBJECTIVE: To explore the genetic basis for a patient presenting with renal insufficiency. METHODS: The patient was subjected to whole exome sequencing, and the candidate variant was verified by Sanger sequencing. Transcriptional activity of the PAX2 gene was analyzed by using a PRS4-EGFP reporter plasmid. RESULTS: Genetic testing revealed that the patient has carried a novel de novo heterozygous variant c.418C>T (p.Arg140Trp) of the PAX2 gene. The influence of c.389C>G (p.Pro130Arg), c.478G>A (p.Ala160Thr), c.418C>G (p. Arg140Gly) and c.418C>T (p.Arg140Trp) variants on the transcriptional activity was also evaluated. Functional study has illustrated that the PAX2-P130R, PAX2-R140G and PAX2-R140W variants all had a significant inhibitory effect on the transcriptional activity, but not the PAX2-A160T variant. CONCLUSION The isolated renal hypoplasia of the proband is probably due to the likely pathogenic variant of the PAX2 gene.
Coloboma/genetics* ; Genetic Testing ; Humans ; Mutation ; PAX2 Transcription Factor/genetics* ; Renal Insufficiency/genetics* ; Vesico-Ureteral Reflux

OBJECTIVE: To study the clinical features of vesicoureteral reflux (VUR) in children with neurogenic bladder (NB), and to provide a reference for its early diagnosis and treatment. METHODS: Clinical data were collected from 26 children with NB and urinary tract infection who were admitted to the Department of Pediatric Nephrology from January 2014 to December 2019. According to the presence or absence of VUR, the children were divided into a VUR group with 11 children and a non-VUR group with 15 children. Clinical features were compared between the two groups. RESULTS: Compared with the non-VUR group, the VUR group had a significantly higher proportion of children with non- CONCLUSIONS When NB children have the clinical manifestations of non-
Child ; Creatinine ; Humans ; Infant ; Radionuclide Imaging ; Urinary Bladder, Neurogenic/etiology* ; Urinary Tract Infections/etiology* ; Vesico-Ureteral Reflux/diagnostic imaging*

Pseudohypoaldosteronism (PHA) in infants is manifested by presence of hyperkalemia, hyponatremia, and metabolic acidosis. At initial stages, PAH is generally suspected as congenital adrenal hyperplasia. Transient PHA has been reported in infants with urinary tract infection and urinary tract malformation. We report a case of 5-month-old infant with failure to thrive and finally diagnosed with transient PHA due to urinary tract infection with vesicoureteral reflux.
Acidosis ; Adrenal Hyperplasia, Congenital ; Failure to Thrive* ; Humans ; Hyperkalemia ; Hyponatremia ; Infant* ; Pseudohypoaldosteronism* ; Urinary Tract ; Urinary Tract Infections ; Vesico-Ureteral Reflux

Urinary tract infection is common in the pediatric population. The most common causative agents are bacteria, among which Escherichia coli is the most frequent uropathogen. Although fungal urinary tract infection is rare in the healthy pediatric population, it is relatively common among hospitalized patients. Fungus may be isolated from the urine of immunocompromised patients or that of patients with indwelling catheters. The most common cause of funguria is Candida albicans. Although more than 50% of Candida isolates belong to non-albicans Candida , the prevalence of non-albicans candiduria is increasing. Herein, we report a case of community-acquired candiduria in a 4-month-old immunocompetent male infant who had bilateral vesicoureteral reflux and was administered antibiotic prophylaxis. He was diagnosed with urinary tract infection caused by Candida lusitaniae and was managed with fluconazole.
Antibiotic Prophylaxis ; Bacteria ; Candida ; Candida albicans ; Catheters, Indwelling ; Escherichia coli ; Fluconazole ; Fungi ; Humans ; Immunocompromised Host ; Infant ; Male ; Prevalence ; Urinary Tract Infections ; Urinary Tract ; Vesico-Ureteral Reflux

PURPOSE: Ureteral duplication is a relatively common congenital urinary tract abnormality that can be associated with various clinical problems such as vesicoureteral reflux (VUR), hydronephrosis, and ectopic ureters. The purpose of this study was to analyze the clinical characteristics of pediatric patients with recently diagnosed ureteral duplication and to identify any differences from those described in previous reports.METHODS: We retrospectively reviewed the clinical characteristics and course of pediatric patients who were diagnosed with ureteral duplication between January 2008 and June 2017.RESULTS: A total of 32 pediatric patients were diagnosed with ureteral duplication during the study period. The male to female ratio was 1:2.2. Twenty-seven patients (84.4%) were first diagnosed with ureteral duplication at less than 3 months of age, and 26 (81.3%) were first diagnosed by prenatal ultrasonography. Four of the 32 patients were diagnosed with bilateral ureteral duplication, for a total of 36 occurrences of ureteral duplication. In 17 occurrences of complete ureteral duplication (47.2%), other urinary tract anomalies were also found; namely, ureterocele (7), VUR (11), and ectopic ureter (5). However, none of the patients with incomplete ureteral duplication had ureterocele or VUR.CONCLUSION: With the advent of routine prenatal ultrasound, ureteral duplication is being diagnosed earlier than was previously possible, enabling timely treatment of the various accompanying urinary tract anomalies. Multicenter studies are needed to establish guidelines for standardized evaluation and treatment of ureteral duplication.
Child ; Female ; Humans ; Hydronephrosis ; Male ; Retrospective Studies ; Ultrasonography ; Ultrasonography, Prenatal ; Ureter ; Ureterocele ; Urinary Tract ; Vesico-Ureteral Reflux

OBJECTIVE: To study the long-term prognosis of vesicoureteral reflux in children. METHODS: A retrospective analysis was performed for the clinical data of 138 children (218 ureters with reflux) who were diagnosed with vesicoureteral reflux for the first time from November 2005 to March 2017 and received medical treatment and regular follow-up. According to the initial grade of reflux, the ureters with reflux were divided into a low-grade group (141 ureters, grade I-III) and a high-grade group (77 ureters, grade IV-V), and the two groups were compared in terms of clinical data and follow-up results. RESULTS: Among the 138 children, there were 82 boys and 56 girls. Their age ranged from 31 days to 10 years at the time of confirmed diagnosis, with a median age of 8 months. The follow-up time ranged from 8 months to 7 years, with a median follow-up time of 1.4 years. At the time of confirmed diagnosis, the high-grade group had significantly higher levels of urinary N-acetyl-β-D-glucosaminidase, urinary microalbumin and urinary immunoglobulin G than the low-grade group (P<0.05). Among the 218 ureters with reflux, 132 (60.6%) achieved a reduction in the grade of reflux (among which 74 achieved complete disappearance of reflux), 43 had no change in the grade of reflux, and 43 had an increase in the grade of reflux. Compared with the high-grade group, the low-grade group had a significantly higher complete remission rate (41.1% vs 19.5%, P=0.001) and a significantly shorter time to complete remission of reflux (P=0.002). CONCLUSIONS Most children with vesicoureteral reflux can achieve a reduction in the grade of reflux or even complete disappearance of reflux during follow-up, and the children with low-grade reflux have better prognosis than those with high-grade reflux.
Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Prognosis ; Retrospective Studies ; Vesico-Ureteral Reflux

BACKGROUND: Few studies have reported on breakthrough urinary tract infection (UTI) associated with the susceptibility of index UTI to prophylactic antibiotics in children with primary vesicoureteral reflux (VUR) receiving continuous antibiotic prophylaxis (CAP). We assessed the impact of the susceptibility of index UTI to prophylactic antibiotics in breakthrough UTIs in children with primary VUR receiving CAP. METHODS: We retrospectively reviewed the medical records of 81 children with primary VUR who were diagnosed after febrile or symptomatic UTI and subsequently received trimethoprim-sulfamethoxazole (TMP-SMX) as CAP between January 2010 and December 2013. We allocated children to a susceptible group or a resistant group based on the susceptibility of index UTI to TMP-SMX. We evaluated patient demographics and clinical outcomes after CAP according to the susceptibility of index UTI to TMP-SMX. Multivariate analysis was used to identify the predictive factors for breakthrough UTI. RESULTS: Of the 81 children, 42 were classified into the susceptible group and 39 into the resistant group. The proportion of breakthrough UTI was 31.0% (13/42) in the susceptible group and 53.8% (21/39) in the resistant group (P = 0.037). Progression of renal scarring was observed in 0% of children in the susceptible group and 15% in the resistant group (P = 0.053). Multivariate analysis showed that TMP-SMX resistance and initial renal scarring were significant predictors of breakthrough UTI. CONCLUSION: Susceptibility of index UTI to prophylactic antibiotics is a risk factor of breakthrough UTI and is associated with poor clinical outcomes in children with primary VUR receiving CAP.
Anti-Bacterial Agents ; Antibiotic Prophylaxis ; Child ; Cicatrix ; Demography ; Humans ; Medical Records ; Multivariate Analysis ; Retrospective Studies ; Risk Factors ; Trimethoprim, Sulfamethoxazole Drug Combination ; Urinary Tract Infections ; Urinary Tract ; Vesico-Ureteral Reflux

PURPOSE: We retrospectively evaluated the efficacy of botulinum neurotoxin A (BoNT-A) on vesicoureteral reflux (VUR), continence status, and urodynamic parameters in children with myelodysplasia who were not responsive to standard conservative therapy.METHODS: The study included 31 children (13 boys, 18 girls) with a mean age of 9.2±2.3 years (range, 5–14 years) with myelodysplasia, retrospectively. All children were fully compatible with clean intermittent catheterization (CIC) and did not respond to the maximum tolerable anticholinergic dose. All children received an intradetrusor injection of 10 U/kg (maximum, 300 U) of BoNT-A into an infection-free bladder. All patients had VUR (22 unilateral, 9 bilateral) preoperatively. The grade of reflux was mild (grades 1, 2), intermediate (grade 3), and severe (grades 4, 5) in 25, 7, and 8 ureters, respectively.RESULTS: The mean maximum bladder capacity increased from 152.9±76.9 mL to 243.7±103 mL (P<0.001), and the maximum detrusor pressure decreased from 57±29.4 cm H₂O to 29.6±13.9 cm H₂O (P<0.001). After BoNT-A treatment, 16 refluxing ureters (40%) completely resolved, 17 (42.5%) improved, 5 (12.5%) remained unchanged, and 2 (5%) became worse. Of the 31 children with urinary leakage between CICs, 22 (71%) became completely dry, 6 (19%) improved, and 3 (10%) experienced partial improvement.CONCLUSIONS: In children with myelodysplasia, we were able to increase bladder capacity, enhance continence, and prevent VUR by using intradetrusor BoNT-A injections. Although our results are promising, a larger group of long-term prospective studies are warranted to investigate this method of treatment.
Botulinum Toxins, Type A ; Child ; Humans ; Intermittent Urethral Catheterization ; Methods ; Prospective Studies ; Retrospective Studies ; Ureter ; Urinary Bladder ; Urinary Bladder, Neurogenic ; Urodynamics ; Vesico-Ureteral Reflux

Endoscopic subureteral injection for treatment of vesicoureteral reflux (VUR) is known to be safe and efficient due to its minimal invasive nature. Being non-migratory, non-antigenic, and biocompatible, Macroplastique (Polydimethylsiloxane) is likely to be stable over time. A 5-year-old boy with a past history of subureteral administration of Macroplastique for unilateral Grade V VUR 4 years ago presented with recurrent gross and microscopic hematuria, along with suprapubic pain. On computed tomography (CT) abdomen, calcified material, suspected to be a stone, was visualized in the bladder. On diagnostic cystoscopy, calcification was seen around the orifice site where Macroplastique injection had been performed. We removed the calcific material by Holmium laser. Endoscopic subureteric implantation has several advantages, but nevertheless, vigilance is needed to detect long-term complications, especially in patients with gross or microscopic hematuria.
Abdomen ; Child, Preschool ; Cystoscopy ; Hematuria ; Humans ; Lasers, Solid-State ; Male ; Urinary Bladder ; Vesico-Ureteral Reflux

PURPOSE: Urinary tract infection (UTI) is one of the common infectious diseases in children. Several imaging modalities can be used to confirm the presence of acute pyelonephritis (APN). Among them the 99mTcdimercaptosuccinic acid renal scan (DMSA scan) is used as a gold standard for diagnosis. Ultrasonography technology is evolving. Therefore, in this study, we investigated the sensitivity and specificity of Power Doppler ultrasonography (PDU) compared to the results from the previous study. METHODS: There were 260 patients included in this study, aged between 1 and 12 months old. The patients were admitted to the Yeungnam University Medical Center between January 2008 and December 2015. All patients underwent both DMSA scan and PDU within 5days of admission. Voiding cystourethrography (VCUG) was performed in 195 patients with abnormal DMSA scan or PDU. RESULTS: The diagnostic sensitivity of APN using PDU was 45.5% and specificity was 85.5% in 260 patients following detection of a defect on DMSA scan that was defined as APN. The diagnostic sensitivity and specificity of PDU for VUR were 65.5 % and 60.1%, respectively. The diagnostic sensitivity and specificity of DMSA scan for VUR were 95.7% and 14.1%, respectively. CONCLUSION: PDU has a high specificity but low sensitivity, so there are limitations in using it to replace a DMSA scan for the diagnosis of APN in children. DMSA scan and PDU have different sensitivity and specificity in diagnosis of VUR, respectively. Therefore, we suggest that the sensitivity and specificity of each test can be helpful in diagnosing APN and VUR when used in conjunction.
Academic Medical Centers ; Child ; Communicable Diseases ; Diagnosis ; Humans ; Pyelonephritis ; Sensitivity and Specificity ; Succimer ; Technetium Tc 99m Dimercaptosuccinic Acid ; Ultrasonography ; Ultrasonography, Doppler ; Urinary Tract Infections ; Vesico-Ureteral Reflux