• Journal of Genetic Medicine
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• v.17 no.2
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• pp.92-96
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• 2020

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

• Investigative Magnetic Resonance Imaging
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• v.4 no.2
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• pp.85-93
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• 2000

Purpose: To evaluate the availability of magnetic resonance (MRI voiding cystography for the diagnosis of vesicoureteral reflux (VUR) and to compare the sensitivity of MR voiding cystography (MRVC) with that of radiographic voiding cystourethrography (VCUG) in the detection of VUR. Material and Methods : MRVC was performed upon 20 children referred for investigation of VUR. Either coronal T1-weighted spin-echo or spoiled gradient-echo images were obtained before and after transurethral administration of a mixture of normal saline and gadopentetate dimeglumine, and immediately after voiding. The findings of MRVC were compared with those of VCUG performed within 6 months of MRVC. Results 1 VUR was detected in 23 ureterorenal units f16 VUR's by both methods, five VUR's by VCUG, and two VUR's by MRVC). The sensitivity of VCUG and MRVC in detecting VUR was 91.3% (21/23) and 78.3% (18/23), respectively. MRVC detected renal scarring in 15 out of 17 kidneys with scintigraphically detected renal scarring. Conclusion : Although MRVC is slightly less sensitive than VCUG in the detection of VUR, it can be used for the diagnosis of VUR and renal scarring simultaneouslyl and thus will reduce the radiation hazard.

• Childhood Kidney Diseases
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• v.12 no.1
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• pp.54-61
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• 2008

Purpose: This study was performed to assess necessity of voiding cystourethrography (VCUG) for infants with urinary tract infection (UTI) who had both normal renal sonography and normal DMSA renal scans. Methods: We reviewed 117 infants hospitalized for UTI between February 2002 and July 2007 at Sanggye Paik Hospital. The diagnosis of UTI was made by culture from a urine specimen obtained by suprapubic puncture(n=57), catheterization(n=58), or collection bag method (n=2, twice positive culture of the same organism). All patients had undergone renal sonography, DMSA renal scan and VCUG. Children with both normal renal sonography and normal DMSA renal scans were evaluated for the presence or severity of vesicoureteral reflux (VUR). Results: Of the 117 patients, 96 were boys and 21 were girls. 28 patients(23.9%) had VUR. 59(50.4%) showed both normal renal sonography and normal DMSA renal scans. Among these 59 patients, 7(11.9%) showed VUR. Three of them had grade I-II reflux, two grade III reflux, and the other two grade IV reflux. One of them showed bilateral VUR, grade IV reflux on the right and grade III on the left. Conclusion: Although the negative predictive value of both normal renal sonography and normal DMSA renal scan for VUR was 88.1%, 7 patients had VUR and two of them had high grade reflux(grade IV). So, we suggest that VCUG should be performed in infants with UTI despite both normal renal sonography and normal DMSA renal scans.

• Childhood Kidney Diseases
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• v.1 no.1
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• pp.46-52
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• 1997

Urinary tract infection (UTI) in children has been known to be a cause of renal damage, leading to scar formation, hypertension and renal failure. And vesico-ureteral reflex (VUR), frequently accompanying UTI in young children, has been incriminated as the main factor causing scar formation. This retrospective study has been undertaken to see the relationship among UTI, VUR and renal scar formation. Study population consisted of 291 children (boy 134, girl 42) with UTI, who have been admitted to the Pediatric Department of Kyungpook University Hospital during 6 1/2 year period from January 1990 to June 1996. VUR was diagnosed by VCUG and renal scar by ultrasonogram, DMSA scan (or DMSA SPECT) and IVP. The following result were obtained. Sexual difference showed male predominance (male to female, 134:42) below 1 year of age, and female predominance (male to female, 11:35) over 5 years of age were rioted. VUR has been found in 64 children (22%) and the degree of reflux, classfied by the method proposed by 'International Reflux Study in Children', were as follows ; Grade I : 4.0%, Grade II : 3.0%, Grade III : 2.7%, Grade IV : 5.8% and Grade V : 6.2%. There was no sexual difference E.coli was the most predominant infecting agent occurring in 167 children (57%), and end-stage renal failure was diagnosed at the time of first admission in 5 children with Grade V VUR. Renal scar has been noted in 49 out of 582 kidneys (8.4%), and the incidence of scar foramation according to the degree of VUR were as follow ; Grade 0 (No reflux) : 1.2%, Grade I : 6.7%, Grade II 27.3%, Grade III 29.4%, Grade IV : 57.1%, and Grade V : 100%. In summary, present study shows that renal scar formation in UTI has close correlation with the severity of VUR occurring more frequently in severe reflux, so that early diagnosis and proper treatment of UTI and VUR is of paramount importance in preventing renal damage in children with UTI.

• Childhood Kidney Diseases
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• v.12 no.1
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• pp.70-77
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• 2008

Purpose: Urinary tract infections(UTIs) are not uncommon findings in febrile pediatric patients and approximately one third of patients with UTI may have renal scars. This research was intended to establish the relationship between duration of fever and renal scars. Methods: The medical records of 143 patients were reviewed retrospectively. Inclusion criteria were as follows: 1) fever as defined by an axillary temperature $\geq37.5^{\circ}C$, 2) accurate history of fever duration and the use of antibiotics 3) no previous history of UTI and 4) positive urine culture. We observed whether the longer fever duration could be associated with the development of initial renal defects and subsequent renal scars, increased C-reactive protein(CRP), leukocytosis and the presence of vesicoureteral reflux(VUR). Results: 1) Patients with longer fever duration after antibiotics showed more frequent initial renal defects(P=0.014). However, fever duration before antibiotic use was not associated with the development of initial renal defects(P=0.244). 2) Incidence of renal scar increased with fever duration before antibiotic use(P=0.006) and fever duration after antibiotic use(P=0.015). 3) CRP correlated with the fever duration after antibiotic use(r=0.287, P=0.003). 4) There was no relationships between fever duration and VUR(P>0.05). Conclusion: Our data suggest that fever duration before/after antibiotic use is significantly associated with the increased development of renal scars in pediatric UTI.

• Childhood Kidney Diseases
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• v.7 no.1
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• pp.38-43
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• 2003

Purpose : Accurate diagnosis of acute pyelonephritis(APN) using clinical and laboratory parameters is often difficult in children. Clinical and experimental studies have demonstrated that renal scarring can be prevented or diminished by early diagnosis and aggressive treatment of acute pyelonephritis. dimercaptosuccinic acid(DMSA) renal scan has been reported to be useful in children for confirmation of the diagnosis of acute pyelonephritis. An analysis was undertaken to correlate the clinical and laboratory manifestations of APN With the results of the DMSA renal scan in different age groups. Methods : We determined the sensitivity of DMSA renal scan in febrile urinary tract infections(UTI) in two groups according to age : group I in less than 2 years; group II in older than 2 years. During the period March 2001 through September 2002, 67 children presented with febrile UTIs. All patients had DMSA renal scan done in the acute period, 55 had voiding cystourethrography(VCUG) and 66 had renal ultrasonogram(RUS) done. Results : There were no significant difference between the two groups in DMSA renal scan (P>0.05). But, in group I sensitivity of DMSA renal scan was 47%; in group II sensitivity of DMSA renal scan was 70%. The grade of reflux correlated with a positive DMSA renal scan. Vesicoureteral reflux did not correlate with age. RUS did not correlate with a positive DMSA renal scan in any age group. Abnormality of RUS did not correlate with age. Conclusion : At present, we believe that DMSA renal scan is the prevailing method in differention of the APN. In addition, it is not invasive and less costly. Even though there is no statistical difference in the sensitivity of DMSA renal scan between young and older children, we can observe that in the younger group, the sensitivity of DMSA renal scan seemed to be lower(47%).

• Childhood Kidney Diseases
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• v.19 no.2
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• pp.56-64
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• 2015

To revise the clinical guideline for childhood urinary tract infections (UTIs) of the Korean Society of Pediatric Nephrology (2007), the recently updated guidelines and new data were reviewed. The major revisions are as follows. In diagnosis, the criterion for a positive culture of the catheterized or suprapubic aspirated urine is reduced to 50,000 colony forming uits (CFUs)/mL from 100,000 CFU/mL. Diagnosis is more confirmatory if the urinalysis is abnormal. In treating febrile UTI and pyelonephritis, oral antibiotics is considered to be as effective as parenteral antibiotics. In urologic imaging studies, the traditional aggressive approach to find primary vesicoureteral reflux (VUR) and renal scar is shifted to the targeted restrictive approach. A voiding cystourethrography is not routinely recommended and is indicated only in atypical or complex clinical conditions, abnormal ultrasonography and recurrent UTIs. $^{99m}Tc$-DMSA renal scan is valuable in diagnosing pyelonephritis in children with negative culture or normal RBUS. Although it is not routinely recommended, normal scan can safely avoid VCUG. In prevention, a more natural approach is preferred. Antimicrobial prophylaxis is not supported any more even in children with VUR. Topical steroid (2-4 weeks) to non-retractile physiologic phimosis or labial adhesion is a reasonable first-line treatment. Urogenital hygiene is important and must be adequately performed. Breast milk, probiotics and cranberries are dietary factors to prevent UTIs. Voiding dysfunction and constipation should be properly treated and prevented by initiating toilet training at an appropriate age (18-24 months). The follow-up urine test on subsequent unexplained febrile illness is strongly recommended. Changes of this revision is not exclusive and appropriate variation still may be accepted.

• Childhood Kidney Diseases
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• v.19 no.2
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• pp.136-142
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• 2015

Purpose: Although the American Academy of Pediatrics provides clinical guidelines for urinary tract infection (UTI) infants, guidelines are not appropriate for neonates and infants less than 2 months of age due to insufficient data. The aim of this study was to evaluate the characteristics of neonates and young infants less than 2 months old (group 1) with UTI compared to older infants from 2 to 12 months old (group 2). Methods: We reviewed UTI patients aged 0 to 12 months admitted to the pediatric department in the last 5 years. Clinical characteristics such as age, sex, fever duration, recurrence, progression to acute pyelonephritis (APN), malformations like hydronephrosis and vesicoureteral reflux (VUR), and laboratory results were compared between group 1 and group 2. Results: 615 patients were included in this study. Group 1 had 94 cases and group 2 had 521 cases. Escherichia coli was the most commonly isolated pathogen in urine cultures. Fever duration was shorter in group 1 (vs.) 2 ($1.91{\pm}1.43$ days vs. $3.42{\pm}2.40$ days, P<0.05). As compared to group 2, group 1 had a higher proportion of patients with antenatal hydronephrosis and hydronephrosis found after admission (10.6% vs. 3.6% and 75.5% vs. 55.9%, P<0.05). There were differences between two groups in white blood cell (WBC) count (Group 1: $13,694{\pm}5,315/{\mu}L$, Group 2: $15,271{\pm}6,130/{\mu}L$, P<0.05) and C-reactive protein (Group 1: $32.02{\pm}35.17mg/L$, Group 2: $46.51{\pm}46.63mg/L$, P<0.05). Conclusion: Compared to older infants, UTI in neonates and young infants shows milder clinical manifestations except higher rates of hydronephrosis but outcome is alike.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.16 no.2
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• pp.89-94
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• 2013

Purpose: The aim of this study was to evaluate the prevalence of increased aminotransferase levels and to identify associated factors in children admitted to hospital with urinary tract infections (UTIs). Methods: The study included children with a diagnosis of UTI who were admitted to the Konyang University Hospital from January 2007 to May 2011. The total number of patients was 249 and the mean age was $15.88{\pm}28.21$ months. UTI was defined as a positive urine culture (> $10^5$/colony forming unit [CFU]) with pyrexia. Patients were treated by intravenous antibiotics, such as ampicillin/sulbactam, aminoglycoside, cephalosporins or vancomycin. Patients with neonatal jaundice or other liver disease were excluded. We investigated the relationship of aminotransferase levels with the type of antibiotic, degree of vesicoureteral reflux (VUR), and causative organisms. Results: Children with increased aminotransferase levels were younger than those with normal levels (p=0.001), but white blood cell count, platelet count, causative organisms, type of antibiotics and presence of VUR were not associated with aminotransferase levels. Aminotransferase levels became normal within 1 month after discharge without special measures, except in 1 case. Conclusion: We found that many children with UTI have abnormal aminotransferase levels. In most cases, this change is mild and self-limiting. We conclude that increased aminotransferase level increase during UTI do not require unnecessary tests and excessive treatment.

• Childhood Kidney Diseases
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• v.21 no.2
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• pp.94-100
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• 2017

Purpose: The American Academy of Pediatrics provides guidelines for managing febrile urinary tract infection (UTI) in infants and children 2-24 months old, but little guidance is offered regarding UTIs in those younger than 8 weeks of age. The definition of UTI is unclear and whether to proceed with micturating cystourethrography (MCUG) or $^{99m}$technetium-dimercaptosuccinic acid (DMSA) scintigraphy scan in this age group is controversial. Methods: We retrospectively analyzed 29 neonates and infants younger than 2 months of age who underwent late DMSA scans 9 months following the first episode of febrile or symptomatic UTI between July 2009 and June 2016. Results: In total, 192 children aged 0-24 months underwent ultrasound and DMSA scans (MCUG in 174/192). Neonates and infants younger than 2 months of age were significantly less likely to develop fever, and had a lower fever peak, shorter duration of fever before admission and after starting antibiotics, longer hospitalization period, lower C-reactive protein, and greater incidence of nonEscherichia coli infection. There was no difference in pyuria response at diagnosis. The prevalence rates of an ultrasound abnormality (28%), vesicoureteral reflux (28%), UTI recurrence (38%), and renal scarring (10%) in infants younger than 8 weeks of age were similar to those in children 2-24 months old. Conclusion: Neonates and infants younger than 2 months of age with UTI warrant special consideration because the fever response used for diagnosis in older children may be absent or blunted. Clinical guideline is needed for the diagnosis and management of UTI in this age group.