Journal of the Korean Academy of Child and Adolescent Psychiatry
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v.14
no.1
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pp.123-127
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2003
Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.
Purpose: Urinary tract infection (UTI) is a common bacterial infection in children and Escherichia coli is a predominant pathogen. The purpose of this study is to evaluate phylogenetic groups and virulence factors of E. coli causing UTI in children in Korea. Methods: From October 2010 to April 2013, urinary E. coli strains were isolated from the 33 pediatric patients of UTI. Multiplex polymerase chain reactions were performed to evaluate the phylogenetic groups and 5 virulence factor genes (fimH, sfa, papA, hylA, and cnf1) of E. coli. Distribution of molecular characteristics of E. coli was analyzed by clinical diagnosis and accompanying vesicoureteral reflux (VUR). Results: Most (84.8%) uropathogenic E. coli were belonged to phylogenetics group B2 and the others (15.2%) were belonged to group D. The virulence factors were distributed as: fimH (100%), sfa (100%), hylA (63.6%), cnfI (63.6%), and papA (36.4%). According to clinical diagnosis, phylogenetic distribution of E. coli strain was 92.3% of B2 and 7.7% of D in acute pyelonephritis and 57.1% of B2 and 42.9% of D in cystitis. Distribution of virulence factors was similar in both groups. In patients with acute pyelonephritis, phylogenetic distribution was similar in VUR and non-VUR group, but proportion of papA genes were lower in VUR group than that of non-VUR group (43.8% vs. 20.0%, P=0.399). Conclusions: This study provides current epidemiologic molecular data of E. coli causing pediatric UTI in Korea and will be a fundamental for understanding the pathogenesis of pediatric UTI.
Purpose : The most important management of congenital hydronephrosis consists of the early diagnosis and evaluation of the pathologic abnormalities of congenital hydronephrosis. This study was conducted to investigate the different causes of hydronephrosis and its clinical outcome. Methods : 54 live neonates who were hospitalized and diagnosed with congenital hydronephrosis at Chungnam National University Hospital from Aug. 1998 to Aug. 2003 were retrospectively analyzed. Results : Hydronephrosis(renal pelvic AP diameter $gt;5 mm) was postnatally detected in 54 cases(2.1%) among 2,539 neonates who were hospitalized from Aug. 1998 to Aug. 2003. There were three times more males than females. Additional imaging studies revealed that ureteropelvic junction obstruction was the most common postnatal diagnosis(48.7%), followed by multicystic dysplastic kidney, vesicoureteral reflux and duplication kidney with ureterocele. Spontaneous regression of hydronephrosis was revealed in 25 renal units(75.8% ) of mild hydronephrosis, 14 renal units of moderate hydronephrosis and 1 renal unit of severe hydronephrosis. Operative correction were carried out in 14 renal units(70%) of severe hydronephrosls. Conclusion : The most common established cause of congenital hydronephrosis in this study was ureteropelvic junction obstruction. There are many cases of spontaneous regression in mild to moderate congenital hydronephrosis. Urinary tract infections occur in many neonates with hydronephrosis. Therefore, early detection and evaluation of congenital hydronephrosis and continuous follow-up at regular intervals are necessary for conservation of renal function. (J Korean Soc Pediatr Nephrol 2005;9:69-75)
Kim, Jong-Hwa;Jung, Ji-In;Yim, Hyung-Eun;Hong, Young-Sook;Lee, Joo-Won;Yoo, Kee-Hwan
Childhood Kidney Diseases
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v.11
no.1
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pp.24-31
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2007
Purpose : Nitric oxide(NO) is a very potent vasodilator synthesized from L-arginine by endothelial cells. We investigated whether urinary NO excretion was altered in various renal diseases in children and whether urinary NO excretion could be used in predicting pathologic causes and fibrosis in renal diseases in children. Methods : We recruited 48 patients(32 minimal change nephrotic syndrome[MCNS] and 16 vesicoureteral reflux[VUR] patients from the pediatric renal clinic in Korea University Guro Hospital. We measured the concentration of nitrite$(NO_2)$ and nitrate$(NO_3)$ by Griess reaction and that of creatinine(Cr) by Jaffe method in randomized spot urines. We then analyzed the urinary$(NO_2+NO_3)/Cr$ ratios and compared the values between each patient group. Urinary $(NO_2+NO_3)/Cr$ ratios were also evaluated according to the recurrence and the degree of proteinuria at sampling in the MCNS group and compared according to the presence of renal scarring and the grade of reflux in the VUR group. Results : The ratios of urinary$(NO_2+NO_3)/Cr$ were significantly increased in the VUR and MCNS groups, as compared to the control group. In the MCNS group, a higher level of urine $(NO_2+NO_3)/Cr$ was observed In frequent relapse patients(relapse over four times within one year after first diagnosis) and the patients with severe proteinuria at sampling, respectively. The VUR group with renal scars also showed a higher level of urinary$(NO_2+NO_3)/Cr$ compared to that without scars. Conclusions : In summary, VUR may play a role in the pathogenesis of VUR and MCNS. NO also seems to affect proteinuria and renal scar formation. (J Korean Soc Pediatr Nephrol 2007;11:24-31)
Lee Dong-Ki;Kwon Duck-Geun;Lim Yun-Ju;Shin Yun-Hye;Yun Suk-Nam;Pai Ki-Soo
Childhood Kidney Diseases
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v.8
no.2
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pp.229-238
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2004
Purpose: This study was perfonned to elucidate the clinical pictures of acute focal bacterial nephritis(nephronia) in children. Methods: We reviewed 9 children with nephronia diagnosed by ultrasonography or computed tomography of kidneys from September 1994 to August 2004. Results: The overall male to female ratio was 2:1, and the age distribution ranged from 0.1 to 6 years(mean $2.8{\pm}2.2$). The cardinal symptoms were fever, chills, abdominal pain and dysuria/frequency. The initial leukocyte count was $21,000{\pm}5,600/uL$, ESR $60{\pm}23mm/hr$, CRP $17{\pm}10\;mg/dl$. Pyuria was noted in every patient and persisted for $10.5{\pm}7.8$ days after antimicrobial treatment. Abdominal sonography demonstrated focal lesion of ill-defined margin and low echogenicity in 5 of 9 patients(55.6%), while computed tomography revealed nonenhancing low density area in all patients(100%). Three of 9 patients(33.3%) had vesicoureteral reflux, greater than grade III. The initial $^{99m}Tc-DMSA$ scan showed one or multiple cortical defects in every patient, and improvements were noted in 2(33.3%) of 6 patients who received follow up scan after 4 months. Intravenous antibiotics was given in every patient under admission. Total febrile period was $11.8{\pm}6.3$ days(pre-admission, $4.0{\pm}3.0;$ post-admission, $7.8{\pm}5.5$ days) and the patients needed hospitalization for $17.2{\pm}8.1$ days. Conclusion: For the early diagnosis of 'acute focal bacterial nephritis' we should perform renal computed tomography first rather than ultrasonography, when the child has toxic symptoms and severe inflammatory responses in blood and urine.
Purpose : We studied the correlation between urinalysis and radiologic findings in infants and children with urinary tract infection. Method : Urine Dipstick test and unstained urine microscopic examination were carried out in 56 infants and children who were hospitallized with the diagnosis of urinary infection by pocitive urine culture at Seoul Adventist from September 1996 through August 1998. Urine was collected by midsream, catheter, urine bag after cleansing or bladder puncture. Renal sonography and $^{99m}Tc-DMSA$ renal scan or voiding cystoureterography were studied. Results : 1)In dipstick analysis, leukocyte esterase(LE) were positive in 30 cases of 56 patients(54%) and Nitrite were positive in 20 cases of 56 patients(36%) and LE or Nitrite were positive in 38 cases of 56 children with UTI(68%). 2)In microscopic analysis, WBC were positive in 38 cases of patients(68%) and bacteria were positive in 23 cases of 56 patients(41%) and WBC or bacteria were positive in 41 cases of 56 children with UTI(71%). 3)Ten cases of 56 UTI patients(18%) showed negative finding in Dipstick and microscopic analysis. 4)There was no significant difference in positive rate of dipstick(71% vs 66%) and microscopia analysis(83% vs 66%) between two group with or without renal scar on $^{99m}Tc-DMSA$ scan (P=0.117). 5)There was no significnt difference in positive rate of dipstick(100% vs 91%) and microscopic analysis(100% vs 100%) between two groups with or without vesicoureteral reflux on VCUG. Conclusion : There was no specific relationships between the abnormal urinalysis and the abnormal findings on $^{99m}Tc-DMSA$ scan or VCUG.
Han Sang-Won;Kang Seon-Jung;Kwon Min-Jung;Kim Dae-Joong;Choi Seung-Kang;Lee Tack
Childhood Kidney Diseases
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v.3
no.2
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pp.203-208
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1999
Purpose: The information on the change of the relative renal function after operation is essential to set the initial treatment plan in unilateral hydronephrosis. So we analyzed the preoperative and postoperative relative renal function, and observed the functional changes by operation and reliability of the various factors in those changes. Materials and Methods: A retrospective trial was done of 81 patients, 35 ureteropelvic junction(UPJ) obstruction and 46 vesicoureteral reflux(VUR), among 393 patients undergoing operations at our institution from March. 1992 to February. 1997. The patients who had infravesical abnormalities, abnormal contralateral kidney and insufficient research data were excluded. We determined the relative renal functions using DTPA and MAG3 scan in UPJ obstruction and DMSA scan in VUR. The mean observation period after operation was 2.01(0.25-4) years. Results: A. UPJ Obstruction 1. The relative renal function was improved significantly after operation(P=0.0007). 2. The kidneys which have preoperative functions between 20% and 40% improved significantly in relative renal function comparing to the kidneys of the other functions(P=0.0046). B. VUR 1. The renal functions didn't improve significantly after operation(P>0.05). 2. There was no significant factor affecting the prognosis in renal functions. Conclusions: 1. The kidneys with UPJ Obstruction show the difference in functional improvement after operation according to the degree of the preoperative renal function, but more investigations about the exact value are needed. 2. In VUR there was no difference between preoperative and postoperative functions, the theoretical basis on objectives of the operation could be the symptoms or factors except the operation.
Kang Hee-Gyung;Kim Nam-Hee;Kang Ju-Hyung;Ha Il-Soo;Cheong Hae-Il;Choi Yong
Childhood Kidney Diseases
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v.8
no.2
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pp.223-228
/
2004
Purpose and Methods: Urinary tract infection(UTI) is one of the most important diseases of childhood, especially for young infants. To characterize the patients diagnosed with febrile UTI in their first 6 months of life and to explore the risk factors of recurrent UTI, a retrospective study was performed. Results: Among the 90 patients studied, 77 were boys(86%). First episodes of UTI were diagnosed at the age of $2.5{\pm}1.4$ months. These patients underwent ultrasonographic evaluation of urinary tract(n=90) and voiding cystourethrography(n=81) where 53 and 35 studies showed abnormal findings respectively, and a total of 45 cases of urinary tract anomaly including vesicoureteral reflux(VUR, n=35) were diagnosed. Normal findings on ultrasonography indicated decreased risk of VUR in boys of 1-3 months of age(n=30). 53 patients were followed up more than 6 months and 45 episodes of subsequent UTI developed in 29 patients during the first 6-month period. Patients with relapse were older than patients without relapse at the diagnosis of first UTI, but other clinical parameters including abnormal findings on the imaging studies and prophylactic antibiotics prescription were not different between the two groups. Conclusion: UTI in early infancy occurred mainly in male infants and half of the patients had structural anomalies. USG was of clinical value in detecting anomalies requiring surgical intervention, and to rule out high grade VUR in 1-3 months old boys. Results of the imaging study or prophylactic antibiotics could not modify the risk of recurrent UTI. (J Korean Soc Pediatr Nephrol 2004;8:223-228)
Park, Cheol;Kim, Min-Sang;Kim, Mi-Kyung;Yim, Hyung-Eun;Yoo, Kee-Hwan;Hong, Young-Sook;Lee, Joo-Won
Childhood Kidney Diseases
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v.16
no.1
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pp.38-45
/
2012
Purpose: The incidence of community-acquired urinary tract infection (UTI) due to extended-spectrum ${\beta}$-lactamase producing $Escherichia$$coli$ (ESBL(+) $E.$$coli$) has increased worldwide. ESBL causes resistance to various types of the newer ${\beta}$-lactam antibiotics, including the expanded spectrum cephalosporins and monobactams. We aimed to investigate the severity of UTI and associated genitourinary malformations in children with febrile UTI caused by ESBL(+) $E.$$coli$. Methods: We retrospectively reviewed the medical records of 290 patients diagnosed as febrile UTI caused by $E.$$coli$ between January 2008 and October 2010 at Korea University Medical center. We classified the patients into two groups with ESBL(+) and ESBL(-) $E.$$coli$ group according to the sensitivity of urine culture. Fever duration, admission period, white blood cell (WBC) counts and C-reactive protein (CRP) in peripheral blood, the presence of hydronephrosis, cortical defects, vesicoureteral reflux (VUR) and renal scar were compared between the two groups. Results: Patients with ESBL(+) $E.$$coli$ were 32, and those with ESBL(-) $E.$$coli$ were 258. If we excluded those tested with a sterile urine bag, patients with ESBL(+) $E.$$coli$ were 22, and those with ESBL(-) $E.$$coli$ were 212. Whether the results of sterile urine bag tests were included or not, there was no significant difference in all parameters between the two groups statistically. Conclusion: Our data shows that ESBL(+) $E.$$coli$ may not be related to the severity of UTI and associated genitourinary malformations.
Park, Kyung-Hee;Yeom, Jung-Suk;Park, Ji-Suk;Park, Eun-Sil;Seo, Ji-Hyun;Lim, Jae-Young;Park, Chan-Hoo;Youn, Hee-Shang
Childhood Kidney Diseases
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v.13
no.1
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pp.49-55
/
2009
Purpose : We aimed to compare the frequency of positive repeat urine cultures 48 hours after antimicrobial treatment between anatomically normal and abnormal urinary tract Infection (UTI) groups to determine the potential clinical usefulness of the tests. Methods : We reviewed medical records of 930 patients under age 14, who had been admitted for UTI at Gyeongsang National University Hospital from January 1, 1998 to August 1, 2008. The eligible patients were divided into two groups the anatomically normal UTI group and the anatomically abnormal UTI group. Statistical analyses were performed with variables consisting of the sex ratio, age distribution and the frequency of positive repeat urine cultures of each group. Results : The sex ratio of the anatomically normal UTI group was M:F=1.9:1, whereas that of the anatomically abnormal UTI group was M:F=3.5:1 (P=0.019). For age distribution, it was found that the mean age of the anatomically normal UTI group was $0.82{\pm}1.83$ years, whereas that of the anatomically abnormal UTI group was $1.18{\pm}2.57$ years (P=0.113). The frequency of positive repeat urine cultures in the anatomically normal UTI group was 3/279 (1.1%), whereas that of the anatomically abnormal UTI group was 1/90 (1.1%) (P=0.675). Conclusion : We conclude that performing a repeat urine culture is not justified in terms of clinical usefulness, and it is unreasonable to use the results as an index of therapeutic success. A follow-up urine culture is unnecessary in patients with both the anatomically normal and abnormal UTI group.
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