• Investigative Magnetic Resonance Imaging
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• v.19 no.3
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• pp.196-199
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• 2015

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is an uncommon congenital abnormality of the female urogenital tract characterized by the triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. A 13-year-old female presented with acute lower abdominal pain. Magnetic resonance imaging (MRI) revealed uterine didelphys, hematometrocolpos, obstructed hemivagina, and right ipsilateral agenesis, consistent with OHVIRA syndrome. Also, a well-defined mass with fluid signal intensity, mimicking adnexal neoplasm was seen in the right lower pelvic cavity adjacent to the posterior wall of the bladder. Vaginal septotomy and drainage of hematometrocolpos were done initially, but unilateral hysterectomy was later performed to relieve the patient's symptoms. The cystic mass in the right lower pelvic cavity was also excised and confirmed as a blind megaureter.

• Clinical and Experimental Pediatrics
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• v.46 no.9
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• pp.854-857
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• 2003

Purpose : It is known that single umbilical artery is frequently associated with gastrointestinal or urogenital anomaly, however, routine renal sonography has been debated in healthy neonate with isolated single umbilical artery. This study is designed to determine the usefulness of routine renal sonography in apparently healthy infants with an isolated single umbilical artery. Methods : Thirty healthy neonates with a single umbilical artery without a major anomaly from January 1995 to July 2002 were enrolled. The authors investigated the clinical background of babies and their mothers after renal sonography after 72 hours of age. When the abnormalities were found at the first renal sonography, the severity of hydronephrosis and degree of obstruction and renal function were analyzed by follow up renal sonography, voiding cystourethrography(VCUG) and technetium-99m-dimercaptosuccinic acid(DMSA) scan or technetium-99m-mercaptoacetyl-triglycerine (MAG3) scan. Results : Among the 30 healthy patients with isolated single umbilical artery, five patients(16.7%) showed abnormalities on first renal sonography with one major(3.3%) and four(13.4%) minor renal anomaly(minimal or mild hydroneohrosis). One major renal anomaly(severe hydronephrosis) showed severe decreased renal function on MAG3 scan without reflux, and the other four minor regressed spontaneously on follow up study. Conclusion : The value of routine early renal sonograpy for detecting renal anomaly in healthy infants with an isolated single umbilical artery remained unclear because most of the anomalies would regress spontaneously in the follow up study.

• Childhood Kidney Diseases
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• v.7 no.1
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• pp.52-59
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• 2003

Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C. Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples. Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome. Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.

• Childhood Kidney Diseases
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• v.26 no.2
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• pp.80-85
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• 2022

Purpose: To determine the prevalence, clinical manifestations, and outcomes of renal involvements in pediatric Alagille syndrome (ALGS). Methods: A total of 21 patients diagnosed with ALGS at age under 18 years who visited Samsung Medical Center from March 1999 to March 2022 were enrolled. ALGS was diagnosed either by clinical manifestations, targeted JAG1 sequencing, and/or liver biopsy. Medical records including sex, age, renal manifestations, urinalysis, serum creatinine, JAG1 sequencing, and ultrasonography were retrospectively reviewed. Results: The male to female ratio was 9:12. The mean age of patients at confirmative diagnosis of ALGS was 18.4 months. Sanger sequencing was performed for 17 patients. Sixteen of 21 patients (76.1%) showed JAG1 mutations. Renal involvement was found in 10 patients (47.6%). The most common type of anomaly was renal dysplasia (40%). One patient having renal dysplasia was pathologically confirmed with glomerular lipid deposition. Two patients (20%) manifested nephrocalcinosis/nephrolithiasis. Among eight renal-involved patients who survived, four (50%) progressed to chronic kidney disease stage 3. Two of these chronic kidney disease patients were diagnosed with hepatorenal syndrome. The other four patients had renal functions preserved, including two without any interventions and two who underwent urological interventions. Conclusions: The current study revealed a high prevalence of renal involvement in Korean pediatric ALGS with diverse phenotypes.

• Advances in pediatric surgery
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• v.12 no.2
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• pp.175-182
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• 2006

VATER association is defined as a combination of 3 or more anomalies- vertebra (V), imperforate anus (A), esophageal atresia with or without tracheoesophageal fistula (TE), renal and radial anomaly(R). We reviewed our experiences in one center to determine etiology, prevalence, clinical manifestation, other associated anomaly and prognosis. Two hundred and twenty-three cases that underwent operations for imperforate anus or esophageal atresia were analyzed retrospectively through medical records at Department of Pediatric Surgery, Asan Medical Center from June, 1989 to July, 2005. The total number of neonates who had been admitted during period of study were 46,773 and VATER association was 9 (0.019 %, 1.92 persons per 10,000 neonates). Median gestational age and birth weight were $37^{+4}wk$ ($35^{+1}$ - $41^{+4}$) and 2,594 g (1,671-3,660), respectively and median age of mother was 32 years (23-38). There was no family history. Three patients were twins but their counterparts had no anomalies. Patients who have 3 anomalies were 6, 4 anomalies in two and 5 anomalies in one patient. Vertebra anomalies were detected in 7(77.7 %), imperforate anus in 8(88.9 %), esophageal atresia in 5 patients (55.6 %), renal anomaly in 6(66.7 %), and radial anomaly in 5(55.6 %), respectively. Four patients are alive, 2 patients were lost during follow up period. Three patients died due to neonatal sepsis, respiratory dysfunction and cardiac failure. VATER association did not appear to be a definite risk factor, but merely a randomized combination of 5 anomalies. The prognosis was dependent on the other associated anomalies, appropriateness of management and operation. Careful follow-up and aggressive treatmentare required for improving survival and quality of life.

• Childhood Kidney Diseases
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• v.1 no.1
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• pp.67-72
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• 1997

Purpose : Congenital urinary tract anomaly is the most common anomaly in the childhood and progress to chronic renal failure and growth retardation. Therefore, early diagnosis arid treatment of urinary tract anomaly are important. Method : We reviewed medical records of 124 patients who had urinary tract anomalies on radiologic studies from Jan. 1986 to Dec. 1996. We analyzed demography and clinical characteristics of urinary tract anomalies. Results : 1) The age distributions were as follows ; 61 cases of 124 patients (49%) were under 1 year, 11 cases (8.8%) from 1 to 3 years, 20 cases (16%) from 4 to 6 years, 10 cases (8%) from 7 to 9 years, 9 cases (7.2%) from 10 to 12 years, 10 cases (8%) from 13 to 15 years, and 3 cases (2.4%) from 16 to 18 years. 2) Chief complaints in patients with urinary tract anomalies were fever, flank pain, prenatally diagnosed hydronephrosis, abdominal mass, dysuria and hematuria. 3) Of 124 patients, 68 cases(54.8%) were combined with urinary tract infection, and main causative organism was E.coli, and the most frequently associated anomaly was vesicoureteral reflux. 4) Most of the urinary tract anomalies were VUR, UPJ obstruction, congenital hydronephrosis and double ureter in order of sequence. 5) Whereas the frequency of simple urinary tract anomaly was 87.9%, that of complex anomaly was 12%. 6) Operative corrections were needed in 47 cases and 7 cases were progressed to renal insufficiency. Conclusion : We emphasize that early detection of urinary tract anomaly, appropriate treatment and regular follow-up are needed.

• Childhood Kidney Diseases
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• v.3 no.1
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• pp.88-94
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• 1999

Purpose : Malformation of urinary tract is among the most common of all congenital anomalies and can progress to irreversible renal damage before diagnosis due to difficulty of early diagnosis. Present study was undertaken to determine the clinical characteristics of urinary tract anomaly and to find out the most appropriate diagnostic and therapeutic measures for children with these anomalies. Methods : During the past 10 years from 1987 to 1998, review of medical records revealed 65 children with congenital anomaly of urinary tract and the following results were obtained. Results : The most common anomalies were ureteropelvic junction obstruction occuring in 26 cases ($36\%$), followed by ureteral duplication in 11 cases, renal agenesis in 10 cases and ureterovesical function obstruction in 7 cases. Complex anomaly of urinary tract was found in 8 cases and anomaly of other systems such as congenital heart disease was detected in 11 cases. The most frequent age group at the time of diagnosis was below 1 year of age constituting 39 cases ($60\%$) and male preponderance was noted as male to female ratio being 2.25:1. Presenting symptoms were urinary tract infection in 25 cases, followed by hematuria, abdominal mass, abdominal pain and voiding difficulty, etc, and in 11 cases, the anomaly was picked up by routine prenatal ultrasonography. Azotemia was noted in 9 cases and the underlying anomaly was obstructive uropathy in 4 out of these 9 cases. Surgical correction was undertaken in 38 cases (most frequently in cases of obstructive uropathy) and in 2 out off cases with obstructive uropathy in whom surgical correction was done, azotemia disappeared during follow up period of 1-5years. No new cases of deteriorating renal function appeared during follow-up period. Conclusion : In spite of high incidence of congenital malformation of urinary tract, early diagnosis is still hampered by nonspecific symptoms and signs. Therefore, in patients with symptoms such as urinary tract infection, abdominal pain and voiding problems, etc, it Is advisable to take various diagnostic tests promptly to pick up any urinary tract anomaly and to apply proper therapy in order to avoid progression to irreversible renal damage. In this regard, prenatal ultrasonography should be utilized more widely as a routine procedure to detect any urinary tract anomalies before birth.

• Journal of Chest Surgery
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• v.25 no.3
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• pp.232-239
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• 1992

Acute renal failure is a well known serious complication following open heart surgery and is associated with a significant increase in morbidity and mortality rate. From 1984 to 1990, 33 patients who had acute renal failure following cardiopulmonary bypass received renal replacement therapy. PD[Peritonial dialysis] was employed in 11 patients and CAVH[continous arteriovenous hemofiltration] was employed in 22 patients. Their age ranged from 3 months to 64 years[mean 25.5$\pm$7.8 years]. The disease entities included congenital cardiac anomaly in 18, valvular heart disease in 15 and aorta disease in 2 cases. Low cardiac output was thought as a primary cause of ARF except two redo valve cases who showed severe Aemolysis k depressed renal function preoperatively. Mean serum BUN and creatinine level at the onset renal replacement therapy were 65$\pm$8 mg/dl and 3.5$\pm$0.4 mg/dl respectively, declining only after reaching peak level 7&10 days following the onset of therapy. Overall hospital mortality was 72.7%[24/33]; 81%[9/11] in PD group and 68.2% [15/22] in CAVH group respectively. The primary cause of death was low cardiac output & hemodynamic depression in all the cases. The fatal complications included multiorgan failure in 7, disseminated intravascular coagulation and sepsis in 6, neurologic damage in 4 and mediastinitis in 3 cases. No measurable differences were observed between CAVH and PD group upon consequence of acute renal failure and disease per se. The age at operation, BUN/Cr level at the onset of bypass and highest BUN/Cr level and the consequence of low output status were regarded as important risk factors, determining outcome of ARF and success of renal replacement therapy. Thus, we concluded that althoght the prognosis is largely determined by severity of low cardiac output status and other organ complication, early institution of renal replacement therapy with other intensive supportive measures could improve salvage rate in established ARF patients following CPB.

• Childhood Kidney Diseases
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• v.22 no.1
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• pp.12-16
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• 2018

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital malformation syndrome that is characterized by a triad of uterine didelphys, blind hemivagina, and ipsilateral renal agenesis. There is a wide variety of phenotypic presentation which is recognized as a spectrum of disease rather than a separate entity. The exact incidence and pathogenesis of HWW syndrome are yet to be investigated. While this disease typically involves adolescent girls who present with abdominal pain or a pelvic mass that is secondary to hematocolpos, nowadays, a majority of potential patients with HWW are being prenatally screened for renal anomalies. Therefore, it is recommended to search for uterovaginal anomalies whenever a multicystic dysplastic kidney or the absence of a kidney is noted in a newborn female, and the role of pediatric nephrologists has become ever more important for early recognition of the disease.

• Childhood Kidney Diseases
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• v.19 no.2
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• pp.125-130
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• 2015

Introduction: This study investigated whether renal and bladder ultrasonography (RBUS) findings performed in children with the first incidence of febrile urinary tract infection (UTI) can predict UTI recurrence, high-grade vesicoureteral reflux (high-grade VUR), or acquired renal scarring (aRS). Methods: In all, 917 children who were admitted to our hospital from January 2001 to October 2010, owing to the first incidence of febrile UTI were enrolled in this study. All children underwent RBUS during admission. The mean follow-up was 7.9 months (standard deviation $[SD]{\pm}13.3$). UTI recurrence rates were calculated according to various clinical parameters. By using bivariate and multiple logistic regression analyses, we determined whether age, sex, abnormal RBUS findings, abnormal dimercaptosuccinic acid renal scan findings, or RBUS findings parameters were predictive of UTI recurrence, high-grade VUR, or aRS. Results: On RBUS, hydronephrosis and congenital anomaly of the kidney and urinary tract significantly predicted UTI recurrence. A small kidney, hydroureter, hydronephrosis, cortical thinning, and increased parenchymal echogenicity significantly predicted high-grade VUR. However, their odds ratios (OR) are low compared to normal RBUS findings (recurrent UTI: OR 0.432 and 0.354 vs. 0.934, respectively, high-grade VUR: .019, 0.329, 0.126, 0.058, and 0.188 vs. 2.082, respectively). No RBUS findings significantly predicted aRS. Recurrent UTI, high-grade VUR, and abnormal RBUS findings significantly predicted aRS (OR of 4.80, 4.61, and 2.58, respectively). Conclusion: RBUS is necessary to exclude severe congenital renal scarring, obstructive uropathy, and renal abscess at the first incidence of febrile UTI and is helpful in determining the need for subsequent clinical imaging.