• 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.10 no.1
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• pp.27-32
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• 2006

Purpose : Conservative management of multicystic dysplastic kidney(MCDK) without nephrectomy has recently been advocated. The purpose of this study was to determine the clinical course of conservatively managed MCDK and to find out possible predictive factors for involution of MCDK by ultrasonography(US). Methods : A retrospective analysis was made on 45 patients(26 boys and 20 girls) in whom MCDK was detected and had been traced by US between Dec. 1993 and Aug. 2005 at Severance Hospital. Results : Median follow-up time was 30 months(range 2-102 months). All patients under-went radionuclide scans and voiding eystourethrograms. The serial follow-up US showed complete involution in 11(24%), partial involution in 19(41%), and no interval change or increased in cyst size in 13(28%) patients. Nephrectomy was done in 3 patients(7%) due to relapsing urinary tract infection(UTI) and severe abdominal distension. The mean age of complete involution of MCDK was 37 months(range 12-84 months). Episodes of UTI were present in 17 patients(37%) and additional genitourinary(GU) abnormalities were found in 22 patients(44%). Hypertension and renal insufficiency was complicated in one patient. No child developed malignant tumor. Univariate analysis showed that five variables were associated with complete involution of the MCDK; gender, site, UTI episode, additional GU abnormalities, and renal length on initial US. After adjusting using the Pearson model, the presence of additional GU abnormalities was exclusively associated with complete involution among the 5 variables(P=0.034). Conclusion : In our review of 46 cases of MCDK, non-surgical approach for patients with MCDK was advisable and we could predict poor prognosis when MCDK is associated with other GU anomalies.

• Childhood Kidney Diseases
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• v.1 no.2
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• pp.144-150
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• 1997

Purpose : The kidney is one of the most common sites of cyst formation. Cystic diseases of the kidney are a diverse group of clinicopathologic entities and variable prognosis. They span a wide range of both age of presentation and severity of the renal disease. And many of them are systemic disorders, sharing similar process of cyst formation in other organs. Recently, development of imaging studies has been contributing widely to the diagnosis of the diseases. Treatment, however, is not established satisfactorily. We performed this study to evaluate the occurrence and treatment of cystic diseases of the kidney. Methods : We reviewed retrospectively the medical records of 44 patients with cystic diseases of the kidney in the Department of Pediatrics, during last 11 years. Results : In the 44 patients with cystic diseases of the kidney, 31 patients(71%) had multicystic dysplastic kidney and 11(35%) of them received nephrectomy due to differentiation from neoplasms or severe abdominal distension. Seven patients(16%) had polycystic kidney disease, and all of them were infantile type. Five patients(11%) were diagnosed as having a simple renal cysts. Progression to renal failure was noted in none of the cases. In 14(32%) out of total 44 patients, the diagnosis was made in neonatal or infantile pelted. Conclusion : The incidence of cystic diseases of the kidney appeared very low, but further investigation on their pathogenesis, classification, and indication of treatment is needed.

• Childhood Kidney Diseases
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• v.13 no.2
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• pp.252-255
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• 2009

Seminal vesicle cysts have been rarely detected. Most of them are caused congenitally, and two-thirds of them are accompanied with ipsilateral renal agenesis or dysplasia. They are usually present with dysuria, urinary frequency, perineal pain, epididymitis, pain after ejaculation, scrotal pain or infertility in the second to fourth decade of patient's life. Occasionally cysts are palpable by digital rectal examination, but radiologic imaging study is necessary to diagnose. We report a case of an infant with seminal vesicle cyst accompanied with ipsilateral renal agenesis detected incidentally in postnatal sonogram. The infant's right side of kidney was diagnosed as antenatally multicystic dysplastic kidney.

• Childhood Kidney Diseases
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• v.20 no.2
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• pp.83-87
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• 2016

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease that is difficult to diagnose. CLD requires early treatment to correct electrolyte imbalance and alkalosis and to prevent severe dehydration. Renal injury is clearly associated with defective electrolyte balance induced by CLD, particularly during the first months or years of life. A 7-year-old boy was diagnosed with CLD following detection of a homozygous mutation (c.2063-1G>T) in SLC26A3 at 6 months of age. During treatment with electrolyte supplements, mild proteinuria was detected at 8 months of age, and is still present. Renal biopsy showed the presence of focal renal dysplasia, with metaplastic cartilage and mononuclear cell infiltration, calcification, and fibrosis in the interstitium. Up to two-thirds of the glomeruli exhibited global obsolescence, mostly aggregated in the dysplastic area. In nondysplastic areas, the glomeruli were markedly increased in size and severely hypercellular, with increased mesangial matrix, and displayed segmental sclerosis. The marked glomerular hypertrophy with focal segmental glomerulosclerosis suggested a compensatory reaction to the severe nephron loss or glomerular obsolescence associated with renal dysplasia, with superimposed by CLD aggravating the tubulointerstitial damage.

• Advances in pediatric surgery
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• v.15 no.1
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• pp.58-63
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• 2009

환아는 4개월부터 직장 탈출증과 심한 변비를 보였으며, 9개월에 질로부터 대변이 배출되는 증상을 나타냈으나 검사상 우측 이상 형성 콩팥 및 이소성 요관 이외 특이 소견이 없어 경과 관찰을 시행하였다. 16개월에 전신 마취하에 이학적 검사를 시행하여 누공을 확인하였고 이를 통한 대장 조영술에서 직장 중복증을 진단하여 수술을 시행하였다. 수술 시야에서 직장부터 횡행 결장에 이르는 관형의 뒤창자 중복을 확인하고, 직장-질 누공을 분리하고 결장 및 직장에는 중격절개술을 시행하였으며, 동반된 기형인 이소성 요관과 무기능 우측 신장은 절제하였다. 환아는 수술 후 3년간 잘 지내고 있다. 직장-질 누공을 동반한 관형의 뒤창자 중복은 매우 드문 선천성 기형으로 저자들의 경험을 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• v.55 no.10
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• pp.367-370
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• 2012

Urinary tract infection (UTI) is a common bacterial illness in children. Acute pyelonephritis in children may lead to renal scarring with the risk of later hypertension, preeclampsia during pregnancy, proteinuria, and renal insufficiency. Until now, vesicoureteral reflux (VUR) has been considered the most important risk factor for post-UTI renal scar formation in children. VUR predisposes children with UTI to pyelonephritis, and both are associated with renal scarring. However, reflux nephropathy is not always acquired; rather, it reflects reflux-associated congenital dysplastic kidneys. The viewpoint that chronic kidney disease results from renal maldevelopment-associated VUR has led to questioning the utility of any regimen directed at identifying or treating VUR. Despite the recognition that underlying renal anomalies may be the cause of renal scarring that was previously attributed to infection, the prevention of renal scarring remains the goal of all therapies for childhood UTI. Therefore, children at high risk of renal scar formation after UTI should be treated and investigated until a large clinical study and basic research give us more information.

• Clinical and Experimental Pediatrics
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• v.54 no.5
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• pp.219-223
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• 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

• Childhood Kidney Diseases
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• v.20 no.1
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• pp.29-32
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• 2016

Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common anomalies identified in newborns. This study aims to demonstrate the prevalence of CAKUT including hydronephrosis diagnosed by antenatal and postnatal ultrasound over a five-year period. Methods: The records of births between May $1^{st}$, 2009 and April $30^{th}$, 2014 at our hospital were collected. The number of infants who underwent renal ultrasound after birth for the detection of CAKUT was counted. The incidence of each type of CAKUT such as hydronephrosis, size abnormality, horseshoe kidney, and Multicystic dysplastic kidney (MCDK) was retrospectively evaluated for antenatal screening and postnatal follow-up examination. Results: During the study period, 33,276 infants were born and 521 neonates underwent postnatal renal ultrasound. 183 cases of CAKUT were detected prenatally and 140 postnatally using ultrasonographic examinations at the following time: (i) 3-7 days postnatally in 123 newborns (87.9%), (ii) during 1-3 months in 11 newborns (7.9%), and (iii) later than 3 months in 6 newborns (4.3%). Among diagnosed CAKUT, hydronephrosis was the most common anomaly with 113 newborns diagnosed prenatally and 46 postnatally. Duplex kidney was the second most common anomaly followed by horseshoe kidney, simple cysts in the kidney and so on. Conclusion: The detection of CAKUT is an important part of the prenatal ultrasound. This study analyzed the prevalence of CAKUT detected on prenatal screening and compared the results to those detected postnatally. Prenatal ultrasound screening fulfills the needs of postnatal examinations and therefore, both antenatal and postnatal sonographic investigations are of vital importance for diagnosis of renal and urinary tract anomalies.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.464-470
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• 2009

Purpose : This study assessed the incidence and outcome of congenital anomalies of the kidney and urinary tract (CAKUT) detected by prenatal ultrasonography Methods : There were 906 cases of CAKUT detected by prenatal ultrasonography and postnatally confirmed at the Asan Medical Center from October 1989 to October 2007. We investigated the incidence and outcome of these cases by reviewing medical records retrospectively. Results : The order of incidence was hydronephrosis, multicystic dysplastic kidney (MCDK), duplex kidney, vesico-ureteral reflux (VUR), single kidney, hydroureteronephrosis, ectopic kidney, polycystic kidney, ureterocele, and posterior urethral valve (PUV). There were 520 cases (57.4%) of hydronephrosis, and 20% of these needed an operation due to significant obstruction. MCDK was associated with other CAKUT in 25.4% of all cases. Approximately 57.9% of duplex kidney cases needed surgical treatment due to ureterocele and VUR. VUR had a male: female ratio of 10:1. Two out of seven cases of autosomal recessive polycystic kidney had progressed to chronic renal failure. Patients with PUV were relatively uncommon, and one out of nine cases progressed to end-stage renal disease. Conclusion : CAKUTs detected by prenatal ultrasonography were composed of various anomalies, and almost all of them had a good outcome without any intervention. However, in some cases, recurrent urinary tract infection or renal failure occurred, especially in bilateral cases. For further management, a long-term multicenter study is needed to investigate the precise incidence and outcome of each anomaly in the general population.