• Title/Summary/Keyword: Congenital urinary tract anomalies

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Clinical Significance of Uptake Difference on DMSA Scintigraphy in Pediatric Urinary Tract Infection

  • Kim, Byung Kwan;Choi, Won Jee;Yim, Hyung Eun;Yoo, Kee Hwan
    • Childhood Kidney Diseases
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    • v.20 no.2
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    • pp.63-68
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    • 2016
  • Purpose: Disruption of normal renal development can lead to congenital anomalies of the kidney and urinary tract, including renal hypodysplasia. We aimed to clarify whether small kidney size affects clinical manifestations in children with urinary tract infection (UTI). Methods: One hundred fifty-four patients who had their first symptomatic UTI between January 2014 and June 2015 were enrolled in this study. Differences in kidney size were estimated based on percent uptake of $^{99m}Tc-$ dimercaptosuccinic acid (DMSA) in scintigraphy. The patients who showed more than 10% difference in kidney size on DMSA scintigraphy with none or minimal cortical defects were included in group A. (group A, n=17). Laboratory, clinical, and imaging results were compared with those of the other patients (group B, n=137). Results: Group A had a relatively higher incidence of vesicoureteral reflux than group B (44% vs 20%, P<0.05). The levels of plasma neutrophil gelatinase-associated lipocalin (NGAL) and serum C-reactive protein were significantly higher in group A (193 [64-337] vs 91 [59-211] ng/mL and 4.1 [0.5-11.9] vs 2.1 [0.7-5.3] ng/mL, respectively; all P <0.05). Linear regression analysis revealed that plasma NGAL level strongly correlated with the difference in renal uptake in DMSA scintigraphy in group A ($R^2=0.505$). Conclusion: The difference in kidney size could influence the clinical course and severity of pediatric UTI.

A Cloacal Exstrophy Variant Associated with Hindgut Duplication (후장중복증을 동반한 변형 총배설강외반증)

  • Lee, Tae-Seok;Oh, Soo-Myung
    • Advances in pediatric surgery
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    • v.1 no.2
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    • pp.190-194
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    • 1995
  • Diphallus is a rare congenital anomaly and is frequently associated with duplication of the urinary tract and rectosigmoid, and commonly associated with vertebral anomalies. Remzi reported less than 100 cases of duplication of all or a portion of the penis, but about 10 cases of complete diphallus with exstrophy of cloaca was reported, and a case of complete diphallus associated with hindgut duplication was reported, and complete diphallus with displacement of bladder associated hindgut duplication and imperforate anus was not reported in Korea. We experienced a case of the complete diphallus associated with displacement of bladder, hindgut duplication, and imperforate anus as a variant of cloacal exstrophy. A review of published cases suggests that this may be the first example of a complete diphallus with displacement of bladder coexisting with the hindgut duplication and imperforate anus.

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Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review

  • Lee, Chan Young;Lee, Na Mi;Yi, Dae Yong;Yun, Sin Weon;Chae, Soo Ahn;Lim, In Seok;Kim, Gwang Jun
    • Perinatology
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    • v.29 no.4
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    • pp.185-188
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    • 2018
  • Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho-Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.

Genetic analysis using whole-exome sequencing in pediatric chronic kidney disease: a single center's experience

  • Lee, Hyeonju;Min, Jeesu;Ahn, Yo Han;Kang, Hee Gyung
    • Childhood Kidney Diseases
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    • v.26 no.1
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    • pp.40-45
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    • 2022
  • Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.

Contralateral Vesicoureteral Reflux in Children with Abnormal Unilateral Renal Development (일측성 신발생이상 환아에 동반된 반대측 방광요관역류)

  • Oh Sung-Wook;Lee Jae-Seung;Kim Myoung-Jun;Han Sang-Won;Bae Ki-Soo
    • Childhood Kidney Diseases
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    • v.1 no.1
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    • pp.53-59
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    • 1997
  • There have been many recent reports that unilateral renal agenesis and multicystic dysplastic kidneys are accompanied by contralateral vesicoureteral reflux leading to its injury. We grouped the children with unilateral renal agenesis, renal hypoplasia, multicystic dysplastic kidney into abnormal unilateral renal development and investigated whether it was accompanied with contralateral vesicoureteral reflux. We retrospectively reviewed 96 pediatric cases of unilateral renal agenesis, hypoplasia, multicystic dysplastic kidney diagnosed at Shinchon Severance Hospital, Yongdong Severance Hospital from 1987 to 1996 and Ajou University Hospital from 1994 to 1996. Diagnosis was based on radiological findings, renal hypoplasia being defined as small renal size with no apparent renal scarring and no irregularity of the calyceopelvic system on abdominal sonography or intravenous pyelography. Among the 96 cases,48 cases carried out voiding cystourethrography. 58 cases were male(60%) and 38 cases were female(40%). The cases of abnormal unilateral development on the left side were 45(47%) and that on the right side were 51(53%). Although there were diverse reasons leading to diagnosis, the major ones included were prenatal sonography, urinary tract infection, and other congenital anomalies. In cases of unilateral renal agenesis & hypoplasia the leading factors were urinary tract infection & other congenital anomalies and in cases of multicystic dysplastic kidney that was prenatal sonography. There was a chronological gap between the mean age of diagnosis(1.8 year) and voiding cystouerthrography(2.5 year, P < 0.01). 9 of the 18 unilateral renal agenesis cases, 5 of the 11 unilateral renal hypoplasia cases, and 3 of the 19 unilateral multicystic dysplastic kidney cases showed contralateral vesicoureteral reflux. Average reflux grade was above G III.Among the 17 children who had contralateral vesicoureteral reflux, 3 children had chronic renal failure and ureteroneocystostomy was carried out in 6 children. From the above results we conclude that screening voiding cystourethrography should be performed in children with abnormal unilateral renal development for early detection of vesicoureteral reflux in the contralateral kidney.

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Clinical Outcome and Follow-up of Neonatal Hydronephrosis Diagnosed Antenatally (산전 진찰에서 진단된 신생아 수신증에 대한 추적 관찰)

  • Park, Su-Eun;Kim, Su-Yung
    • Childhood Kidney Diseases
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    • v.2 no.2
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    • pp.161-168
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    • 1998
  • Purpose : Lots of congenital anomalies of urinary tract including hydronephrosis are detected in fetus and neworn by popular use of prenatal ultrasonography. But there are little data available in Korea about natural course of hydronephrosis diagnosed antenatally by ultrasonography. So we intended to help management of these patients by analizing the follow up data of the neonates with hydronephrosis diagnosed antenatally. Methods : We evaluated 22 patients with neonatal hydronephrosis(33 renal units) who were diagnosed prenatally and confirmed postnatally. Especially patients with suspected ureteropelvic junction obstruction were followed regulary with renal ultrasonography and diuretic renography for 8-24 months. Results : 1) The etiologies of neonatal hydronephrosis diagnosed prenatally were suspected ureteropelvic junction obstruction($69.9\%$), vesicoureteral reflux($15.1\%$), primary megaureter($3.0\%$), double ureter with ureterocele($3.0\%$), ureteral stricture($3.0\%$), multicystic dysplastic kidney(3.0$\%$), and ureterovesical junction obstruction(3.0$\%$). 2) The follow up results of 23 renal units of suspected ureteropelvic junction obsruction: Except 4 renal units with palpable abdominal mass, of the remained 19 renal units, 14 units($73.6\%$) were improved spontaneously, 3 units($15.7\%$) remained stable, only2 units($10.5\%$) were aggravated. Conclusion : We concluded that in most cases of hydronephrosis there is no need for immediate surgery, and that nonoperative approach, using serial ultrasonography and diuretic renogram, is safe management of neonatal hydronephrosis diagnosed anteratally.

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Predictors of Serious Bacterial and Viral Infections among Neonates with Fever (신생아 발열 환자에서 중증 감염의 예측 인자)

  • Choi, Ui-Yoon;Lee, Jung-Soo;Lee, Jung-Hyun
    • Neonatal Medicine
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    • v.15 no.1
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    • pp.61-66
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    • 2008
  • Purpose : The purpose of this study was to describe the epidemiologic features of febrile illnesses in newborns and to predict the risk of serious infections in this population. Methods : A retrospective study was conducted on 123 full-term infants <30 days of age with an axillary temperature >38$^{\circ}C$ who were hospitalized between 2000 and 2006. Neonates with prenatal risk factors, congenital anomalies, antibiotic administration prior to admission to the hospital, or suspected hospital-acquired infections were excluded. We evaluated the symptoms, physical examination findings, laboratory data, and clinical course between the high- and low-risk groups for serious infections. Results : The high-risk group included 30 infants with the following diagnoses in order of frequency: aseptic meningitis, urinary tract infection, bacterial meningitis, infectious enteritis, sepsis concomitant with disseminated intravascular coagulopathy, bacteremia, pneumonia, cellulitis, and omphalitis. Leukocytosis and thrombocytopenia were statistically different between the two groups. Factors, such as moaning signs, seizures, body temperature, and pulse rate were statistically significant. Conclusion : Unlike previous studies, we included newborns with clinical bacterial infections and aseptic meningitis as the high-risk group. Leukocytosis, thrombocytopenia, moaning signs, seizures, and changes in vital signs were considered useful predictors for identifying febrile neonates at high-risk for serious infections in spite of a difference in the definition of serious infection.