• Childhood Kidney Diseases
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• v.9 no.1
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• pp.83-90
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• 2005

Focal segmental glomerulosclerosis(FSGS) has been detected in approximately 10% of cases of Idiopathic nephrotic syndrome in children, and exhibits a poor response to initial steroid therapy, as well as a higher rate of progression to chronic renal failure and relapse after kidney transplantation. We describe a case of an eleven year-old boy with steroid-resistant FSGS who exhibited a response to a second trial of cyclosporin h(CsA) therapy. At the age of 26 months, this patient was diagnosed with steroid-resistant FSGS. For 9 years, he had undergone a gauntlet of therapies to induce remission; oral steroids, cyclophosphamide, methylprednisolone(mehyIPd) pulse therapy, CsA, and ibuprofen therapy. Although these therapies failed to induce remission, the patient's renal function remained In the normal range during the nine years of treatment. At the age of ten years, the patient's proteinuria decreased, and complete remission was attained with a second administration of CsA, coupled with a low dose of oral steroids. This patient continues to receive CsA without relapse. Therefore, our major concern involves the possibility of relapse after the discontinuation of CsA therapy Our findings in this case suggest that, in cases of refractory FSGS, if renal insufficiency does not emerge, aggressive therapy for the amelioration of proteinuria should be continuously pursued.

• 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.

• Journal of Yeungnam Medical Science
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• v.18 no.1
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• pp.85-93
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• 2001

Background: The number of glomerulus has been considered one of the etiologic factors especially for focal segmental glomerulosclerosis. However, glomeruli are too many to calculate them correctly. Although the fractionator method has became convinced, in which they used selected sections, not whole kidney sections, with same intervals, it is also very hard to get good results. Because it is still very time-consuming and laborous work which leads to make big observers' biases. Methods and Materials: We designed the index for glomerular number to estimate the tendency of increase or decrease of the number of it in different kidneys and which was evaluated by other conventional methods including fractionator method. Index was based upon the theory by Nyengaard; "the number of glomerulus correlates with the weight of kidney, which is positively correlated with body weight". Calculating formula is the number of glomeruli/surface areas of cortices, which contain calculated glomeruli multiplies by kidney weight/body weight. Results: We applied this index to kidneys of FGS/Kist mouse and those of RFM/Nga mouse. The former is spontaneous glomerulosclerosis model with heavy protein uria and renal failure and the latter is the mother side of FGS/Kist mouse but has no glomerular disease or protein uria. The number of glomerulus of FGS/Kist mouse was decreased by 30% to those of RFM/Nga mouse. Conclusion: This index was useful and reliable for estimating the relative glomerular number between two groups.

• Childhood Kidney Diseases
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• v.3 no.2
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• pp.145-152
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• 1999

Purpose: The prevalence of childhood renal diseases including the nephrotic syndrome in Korea has not been well established. In priority to this point, we analyzed ninety-six nephrotic children of the annual incidence, the ratio of them to all inpatients and estimated incidence of childhood nephrotic syndrome under 15 years of age in Taejon, Korea. Also we classified them by clinical and histopathological findings. Methods: we analyzed the admission and outpatient records retrospectively between June 1986 and December 1998. For the estimation of incidence, we were assisted with three other general hospitals in Taejon Results: The mean annual number and the ratio to inpatients were $7.4{\pm}2.1,\;0.3{\pm}0.11%$ respectively. The latter showed a tendency to decrease during the recent three years. The estimated annual incidences of childhood nephrotic syndrome in Taejon were 5.6 in 1988, 5.5 in 1993 and 4.8 in 1998 per 100,000 for children aged up to 15 years. The mean age of our patients was $6.8{\pm}3.5$ tears, 1-7 years of age was 55 cases(57.3%), and male to female ratio was 3.6:1. By the clinicopathologic classification, 89 cases(92.7%) were classified as primary nephrotic syndrome, and 7 cases(7.3%) as secondary nephrotic syndrome. Among the primary nephrotic syndrome, there was 79.8% of minimal change nephrotic syndrome, focal segmental glomerulosclerosis 11.2%, mesangial proliferation 4.5%, membranoproliferative glomerulonephritis 3.4%, and membranous nephropathy 1.1%. $Henoch-Sch\"{o}nlein$ nephritis was the most frequent of 3 cases in the secondary nephrotic syndrome. Respones to steroid therapy of 71 cases minimal change were classified as non-relapse 22.5%, non-frequent relapse 49.3%, frequent relapse 18.3% and steroid-dependence 9.9%. Conclusion: The estimated incidence of childhood nephrotic syndrome was about 5 per 100,000 for children aged up to 15 years and it showed little changes during 10 years in Taejon, Korea. Our results of clinicopathologic study was little difference from the results reported in other literatures.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.17-24
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• 2000

Purpose: MCNS is found in approximately $85\%$ of the idiopathic nephrotic syndrome in children and shows good prognosis with initial steroid therapy. However in FSGS, there is poor prognosis with initial therapy and shows higher rate of progression to chronic renal failure and relapse after kindney transplantation. We have experienced 8 patients who were diagnosed as MCNS on initial renal biopsy and then progressed to FSGS on follow-up biopsy. So we have investigated their clinical course and risk factors for transition of MCNS to FSGS. Methods: We conducted a retrospective study with a review of histopathologic findings and clinical manifestations of 296 cases of MCNS and FSGS that were diagnosed from January 1988 to May 1999. We classified them into 3 groups according to the histopathologic finding; MCNS, FSGS, MCNS progressed to FSGS in follow-up biopsy. Results: The number of children was 296 cases comprising 241 cases($81.4\%$) showing MCNS, 8 cases($2.7\%$) transition group, 47 cases($15.9\%$) FSGS. The mean onset age was $6.0{\pm}2.6$years in MCNS, transition group $8.3{\pm}2.3$years, FSGS $7.2{\pm4.3$years, and the gender (M:F) ratio was 3.7:1 in MCNS, 3:1 in transition group, 1.8:1 in FSGS. Comparing the presence of initial hematuria, hypertension,24 hour urine protein, serum albumin, serum creatinine, there were significant difference between the transition group and the FSGS group in the following points; 24hour urine protein $684:342mg/m^2/hr$(P<0.05), serum albumin 1.92: 2.47g/dL(P<0.05), serum cholesterol 494:343mg/dL(P<0.05). Refractoriness to steroid therapy was 13.3$\%$ in MCNS. $12.5\%$ in transition group, $29.6\%$ in FSGS; significantly higher in FSGS(P<0.05). Immunosuppressant therapy was performed in $58.5\%$ of MCNS, $100\%$ in transition group, $80.8\%$ in FSGS; transition group showed significantly higher .ate(P<0.05) comparing with MCNS. Mean number of relapse and duration from onset to first relapse showed no significance difference between these groups. Conclusion: 249 patients with MCNS have been followed and $3.2\%$ (8 patients) of them has shown change in pathologic diagnosis from MCNS to FSCS. The risk factor for transition could not be found. Our results point to the need for a follow-up biopsy to certify the possibility of transition to FSCS in some MCNS cases with refractory cases to steroid therepy, frequent relapsing cases, or in case of no remission in spite of vigorous immunosuppressant therapy.

• Childhood Kidney Diseases
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• v.6 no.1
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• pp.61-67
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• 2002

Purpose: The urinary mass screening program in school aged population has been performed since 1981, but the consensus on the follow-up schedule and the management of isolated proteinuria has not been reached yet. The aim of this study was to investigate the cause of isolated proteinuria and to propose a guideline for the treatment and follow-up afterwards Methods: The medical records of 114 cases of isolated proteinuria detected through the analysis of urinary mass screening and evaluated at the pediatric outpatient clinic of Asan Medical Center from January 1990 to July 2001 have been reviewed. Results: The classification of isolated proteinuria was as follows. Transient proteinuria $32\%$, orthostatic proteinuria $65\%$, persistent proteinuria $3\%$, In orthostatic proteinuria group, daytime and nighttime proteinuria were $319.2{\pm}189.1\;mg/dL$ and $56.5{\pm}56.1\;mg/dL$. In persistent proteinuria group, daytime and nighttime proteinuria were $1140{\pm}540.5\;mg/dL$ and $289{\pm}58\;mg/dL$. After 30 month follow-up, 2 cases of persistent proteinuria were needed renal biopsy and 1 case revealed focal segmental glomerular sclerosis. In all cases, serum creatinine, albumin and complements levels were normal. In the orthostatic proteinuria group, no significant renal diseases were detected. Conclusion: Since most of the isolated proteinuria detected through the school urinary mass screening were orthostatic proteinuria or transient proteinuria, initially aggressive diagnostic method such as renal biopsy is not needed and regular follow- up with quantitation of proteinuria is warranted.(J Korean Soc Pediatr Nephrol 2002 ; 6 61-7)

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.87-94
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• 2018

We present the case of long-term observation of a patient with chronic kidney disease (CKD) caused by advanced focal segmental glomerulosclerosis (FSGS) resulting from underlying congenital chloride diarrhea (CLD). A 20-year-old woman was admitted for prolonged proteinuria despite conservative treatment for CLD. She was diagnosed with CLD and started taking KCl salt supplementation from the time of birth. Mild proteinuria was first found at 12 years of age, which progressed to moderate proteinuria at 16 years of age. At 16 years of age, CKD stage 2 with FSGS was diagnosed based on the initial assessment of the glomerular filtration rate (GFR) and kidney histology. On admission, we re-assessed her renal function, histology and genetic analysis. GFR had deteriorated to CKD stage 4 and renal histology revealed an advanced FSGS combined with tubulointerstitial fibrosis. A homozygous mutation in the SLC26A3 gene (c.2063-1G>T) was found by diagnostic exome sequencing and may have been inherited from both parents. CLD patients can be more vulnerable to renal injury, which may also cause progression of renal failure. Therefore, even if there is an early diagnosis and adequate salt supplementation, close monitoring of renal function and tailored treatment should be emphasized for renal protection and favorable CLD prognosis.

• Childhood Kidney Diseases
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• v.19 no.2
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• pp.98-104
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• 2015

Objective: To find out clinical features and long-term outcomes of idiopathic childhood nephrotic syndrome(NS) patients with late steroid resistance(LSR)/late steroid sensitiveness(LSS). Patients and Methods: A retrospective chart review was performed on 480 patients diagnosed with idiopathic childhood NS at Asan Medical Center Children's Hospital from 1990 to 2013. Twenty-four patients whose responsiveness to steroids changed over a minimum 2 year follow-up period (2-17.5 years) were investigated. All patients had undergone a renal biopsy. Results: Among 480 nephrotic children, 428 (89%) were sensitive to the first steroid course. Of those who initially responded, 11 (2.5%) developed resistance to steroid therapy after relapses. LSR mostly developed between 1 month and 1 year after the initial episode. Six patients showed a minimal change and five showed focal segmental glomerulosclerosis (FSGS). Nine (82%) responded to cyclosporine or methylprednisolone pulse therapy. Of these, two had no further relapse, whereas the other seven experienced several relapses that ranged in length from 1.1 to 13.9 years. Three of the nine who initially responded to immunosuppression went on to experience several changes in steroid responsiveness. Two (18%) with resistance to immunosuppressants, including steroids, eventually progressed to end stage renal disease. Among the 52 patients (11%) who were initially steroid resistant, 13 (23%) were converted to steroid sensitive at relapses. Among these, 9 showed minimal change and 4 showed FSGS. Two had no further relapse and the other 11 responded to steroids on subsequent relapses ranging in length from 1.3 to 9.4 years. All these patients have had no further changes in steroid responsiveness with normal renal function. Conclusions: In this study, 2.5% of initial steroid responders and 25% of initial steroid non-responders changed their responsiveness to steroids at subsequent relapses. Eighteen percent of LSR patients developed end stage renal disease. All of the LSS patients showed preserved normal renal function. Responsiveness to immunosuppressants seemed to be the most important factor determining longterm outcomes in LSR/LSS patients.

• Childhood Kidney Diseases
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• v.10 no.2
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• pp.142-151
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• 2006

Purpose : Growth retardation is one of the serious problems in children with nephropathy requiring long-term steroid therapy. We observed the efficacy and safety of recombinant human growth hormone(rhGH) on the growth in children with long-term steroid therapy. Methods : We studied 60 children(male 47, female 13) with nephropathy who received rhGH(1 U/kg/week) for more than 0.5 years($1.39{\pm}1.12$). Their mean age was 11.0 years($11.17{\pm}2.62$). They received steroid therapy from January 1987 through July 2005, and the mean duration of steroid therapy was $4.32{\pm}2.97$ years. Among the patients, there were 32 nephrotic syndrome, 9 IgA nephropathy, 4 mesangial proliferative glomerulonephritis, 4 focal segmental glomerulosclerosis, 2 Henoch $Sch\ddot{o}nlein$ nephritis, 2 Alport syndrome and 7 other cases. Data were gathered on the growth parameters, such as growth velocity, height standard deviation score(SDS), IGF-1, IGFBP-3, bone mass density(BMD) and general chemistry changes. Results : Height velocity increased significantly with rhGH therapy from $3.29{\pm}1.95$ to $8.66{\pm}3.75$(cm/yr) and height SDS decreased from $-0.72{\pm}0.93$ to $-1.04{\pm}0.86$ at one year after steroid therapy but increased to $-0.55{\pm}0.96$ at one year after rhGH administration(P<0.05). BMD improved from $0.71{\pm}0.14$ to $0.79{\pm}0.15g/cm^2$(P<0.05). IGF-1 increased from $445.09{\pm}138.01$ to $506.62{\pm}181.31ng/mL$(P<0.05). IGFBP-3 decreased from $4073.75{\pm}700.78$ to $3933.61{\pm}789.25ug/L$ numerically, but there was no statistically significant difference(P=0.533). Conclusion : The administration of rhGH in the short stature patients who received long-term steroid therapy showed improvement in growth parameters such as SDS, growth velocity, and BMD without significant side-effects or changes in the biochemical parameters.

• Journal of the Korea Computer Graphics Society
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• v.11 no.2
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• pp.40-46
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• 2005

본 논문에서는 스윕곡면(sweep surface)을 기반으로 복잡한 3차원 물체의 형상을 변형하는 새로운 자유형상 변형(free-form deformation)기법을 제시한다. 본 논문에서 제시한 방법은 기존의 격자점(control lattices)을 조정하는 체적기반의 방법에 비해 스윕기반의 절차적 (procedural) 모델링 기법의 직관성을 활용하여 사용자에게 보다 효율적인 형상변형 기법을 제공한다. 3차원 물체의 정점들은 스윕곡면의 단면(cross-section)에 바인딩(binding) 되어 곡면의 변화에 따라 형상변형을 한다. 본 논문에서 제시한 스윕기반 형상변형 기법은 3차원 물체를 부분적으로 변형하는 기법과 계층구조를 기반으로 전반적인 형상을 변형하는 기법으로 구분된다. 부분적인 형상변형 기법은 스윕곡면을 구성하는 성분의 다단계(multi-level) 표현을 통하여 사용자에게 다중해상도(multi-resolution) 형상변형 기능을 제공한다. 계층구조에 기반한 형상변형 기법은 복잡한 3차원 물체를 위상구조에 따라 여러 계층으로 분할하고, 각 부분의 형상을 근사하는 스윕곡면들을 생성한다. 분할된 각 부분의 정점(vertices)들은 해당 스윕곡면에 바인딩 되어 스윕곡면의 단면의 변화를 따르게 된다. 이러한 상황하에서 스윕곡면들은 3차원 물체의 계층구조에 따라서 서로 상호작용(interaction)을 하게 되고, 결과적으로 3차원 물체의 각부분은 상호반응적 형상변형을 한다. 이러한 계층구조에 기반한 상호반응적 형상변형 기법은 사용자의 의도에 부합하는 보다 사실적이고 기능적인 형상변형을 가능하게 한다. 본 논문에서는 다양한 3차원 물체에 대한 실험을 통해 제시된 방법의 효율성을 입증한다. 결과 막성 사구체병증과 같은 신질환이 발견될 수 있으므로 신조직검사의 적응증에 합당한 경우 적극적인 신조직검사를 시행하여 원인 질환을 찾는 노력이 필요할 것으로 사료된다.. 남아가 75명으로 남녀비는 3.6:1을 보였다. 임상병리학적 분류상 일차성 신증후군이 89명(92.7%), 이차성 신증후군이 7명(7.3%)이었으며 일차성 신증후군에서 minimal change nephrotic syndrome이 71명으로 79.8%, focal segmental glomerulosclerosis 11.2%, mesangial proliferation 4.5%, membranoprolifrative glomeulonephritis 3.4%, membranous nephropathy 1명 1.1%이었으며 2차성 신증후군은 $Henoch-Sch\"{o}nlein$ nephritis가 3례로 가장 많았다. 미세변화 신증후군 71명 중 비재발군이 16명으로 22.5%, 비빈발 재발군 49.3%, 빈발 재발군 18.3%, 스테로이드 의존군 9.9%를 보였다. 결론 : 대전시에서의 신증후군 환아의 발생빈도는 15세이하 소아 10만명당 약 5명으로 추정되었으며 10여 년전과 비교하여 큰 변화를 보이지는 않았다. 또한 저자들의 임상병리학적 연구결과가 다른 문헌에서 보고된 소아 신증후군의 연구결과와 큰 차이를 보이지 않음을 알 수 있었다. 자극에 차이가 있지 않나 추측되며 이에 관한 추후 연구가 요망된다. 총대장통과시간의 단축은 결장 분절 모두에서 줄어들어 나타났으나 좌측결장 통과시간의 감소 및 이로 인한 이 부위의 통과시간 비율의 저하가 가장 주요하였다. 이러한 결과는 차가운 생수 섭취가 주로 결장 근위부를 자극하는