• Clinical and Experimental Pediatrics
• /
• v.48 no.1
• /
• pp.27-33
• /
• 2005

Purpose : To determine incidence, characteristics and risk factors associated with intrauterine intraventricular hemorrhage(IU-IVH) among premature infants. Methods : The medical records of infants with intraventricular hemorrhage(IVH) admitted to the neonatal intensive care unit of Asan Medical Center from January 1999 to June 2003 were reviewed retrospectively. Infants whose IVH with cystic change were detected within five days of life were defined as the IU-IVH group. The control group included those without any IVH. Various maternal and neonatal factors were evaluated between the IU-IVH and control groups, and risk factors for IU-IVH were identified using multiple logistic regression analysis. Results : The incidence of IU-IVH was 49/1024(15.9%). Mothers who are younger, primiparous, use less antenatal steroid, and neonates with greater incidence of neonatal respiratory distress syndrome, had higher incidences of IU-IVH compared to neonates with normal neurosonography. Risk factors associated with IU-IVH included neonatal respiratory distress syndrome and placenta infarct by placenta biopsy. Most infants with IU-IVH were ${\geq}1,501g$, ${\geq}34$ weeks gestational age and had low grade IVH. The size of the cysts associated with IU-IVH remained the same or disappeared in 96 %. IU-IVH does not seem to affect short-term neurodevelopmental outcome although a longer period of follow-up is needed. Conculusion : IU-IVH occurred mostly in ${\geq}1,501g$, ${\geq}34$ weeks infants with grade I IVH without developmental delays. However, the high incidence of total IVH merits more attention in terms of awareness of its existence as an unusual IVH among premature infants.

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

• Journal of Chest Surgery
• /
• v.35 no.4
• /
• pp.303-306
• /
• 2002

Patients with severe Ebstein's anomaly showing in the neonatal period, represent progressive cardiac enlargement with pulmonary hypoplasia and functional pulmonary atresia with patent ductus alteriosus-dependent pulmonary circulation. Biventricular repair in these patients had been mostly unsuccessful except for Starnes' procedure that converts the anatomy to single ventricle physiology for Fontan procedure. A 4-days old male was admitted with the diagnosis of severe Ebstein's anomaly with anatomic pulmonary atresia and severe cardiac enlargement. He successfully underwent biventricular repair with vertical plication method of atrialized right ventricle, tricupid annuloplasty, transannular right ventricular outflow tract reconstrulltion, atrial septal defect patch closure with fenestration, and right atrial reduction angioplasty Postoperatively, cardiothoracic ratio was significantly reduced and mild tricuspid regurgitation was remnant in echocardiography. The patient is currently 10 months old and is fully active without restrictions.

• Childhood Kidney Diseases
• /
• v.13 no.1
• /
• pp.84-91
• /
• 2009

We experienced a female neonate with congenital nephrotic syndrome (CNS) associated with congenital diaphragmatic hernia (CDH). Because of the rare combination of two conditions, we report this case with literature review. CDH was found immediately after birth and emergency operation was done for hernia repair. But on the next day, generalized edema and oliguria(0.59 mL/kg/hour) was found and her blood chemistry showed hypoalbuminemia (1.6 g/dL), increased BUN (27.7 mg/dL) and serum creatinine( 1.8 mg/dL) along with heavy proteinuria (4+). We started albumin infusion with a bolus of intravenous furosemide. We suspected the neonate had congenital nephrotic syndrome and her 24hr urine protein was 1,816 mg/day. In spite of immunosuppressive therapy, the nephrotic syndrome and renal failure progressed. We started peritoneal dialysis on the day of life 22 but it was not satisfactory. She was complicated by intracranial hemorrhage and multi-organ failure and expired at 34 days of age. Kidney necropsy was performed which showed diffuse mesangial sclerosis (DMS). Her chromosome study revealed 46, XX and her gene study revealed a heterozygous missense mutation, Arg366His, in Wilms tumor suppressor gene (WT1). This case deserves attention on account of the 4th case of CNS with CDH revealing the Arg366His mutation in the WT1 gene and G the 1st case of early onset renal failure without male pseudohermaphroditism and Wilms tumor with CNS, CDH and the Arg366His mutation in the WT1 gene. So, this report gives support to the hypothesis that Arg366His mutation in the WT1 gene can result in CNS and CDH.

• Childhood Kidney Diseases
• /
• v.12 no.1
• /
• pp.93-98
• /
• 2008

Rare cases of IgG associated mesangial glomerulonephritis(IgG GN) defined by exclusive or predominant mesangial IgG deposits were reported first by Sato et al.(1993). and subsequently 10 pediatric cases were reported by Yoshikawa et al.(1994). Previous reports suggested that the prognosis of IgG GN is relatively benign course but recent report suggested that prognosis of IgG GN is highly variable. Also the recurrence of IgG GN in a renal transplant was reported by Fakhouri et al. (2002). Such a recurrence highlights the specificity of this type of glomerulonephritis. We experienced two pediatric cases of IgG GN proven by renal biopsy. Case 1. 4-year-old girl with nephrotic syndrome admitted because of general edema. The patient's urinalysis showed proteinuria and microscopic hematuria. Renal biopsy was performed because of relapsed nephritic syndrome. Light microscopic finding was nonspecific with almost normal histology. Immunofluorescent findings showed diffuse segmental IgG(+) and IgM(+) deposits in the capillary walls, and focal segmental spotty C4(trace), C1q(trace) deposits. Electron microscopic findings showed focal portion of mesangial electron dense deposits without mesangial widening. Case 2. 11-year-old girl admitted for evaluation of microsopic hematuria detected through mass school urinary screening program. Renal biopsy was performed for exact diagnosis. Immunofluorescent findings showed focal segmental IgG(+), IgM(+/-) and C3(+/-) deposits. Electron microscopic findings showed focal portion of mesangial electron dense deposits without mesangial widening.

• The Korean Journal of Nuclear Medicine
• /
• v.33 no.1
• /
• pp.57-64
• /
• 1999

Purpose: The purpose of this study was to evaluate the accuracy of Tc-99m DTPA diuretic renal scans in children with dilated upper urinary tract. Materials and Methods: We reviewed diuretic renal scans of 14 pediatric patients (age range: 3 days to 4 years) with unilateral hydronephrosis diagnosed by ultrasonography. Diuretic renal scan was done using Tc-99m DTPA and standardized protocol. In 3 neonates, diuretic renal scans were performed within 1 week and 3-7 months after birth. Results: Six patients required Pyeloplasty and eight were managed conservatively. All 6 patients requiring Pyeloplasty were diagnosed as having ureteropelvic junction obstruction in the diuretic renal scan. In these 6 patients, post-operative renal scans at 3-12 months after surgery were converted to nonobstructive pattern in 5 and a nonfunctioning pattern in 1. In 3 patients who underwent diuretic renal scan within 1 week after birth, nonobstructive patterns of initial scan were converted to obstructive patterns in the follow-up scan. However, all patients with nonobstructive diuretic renal scans performed after the neonatal period did well on serial ultrasonography and showed favorable clinical outcome without progression to obstruction. Conclusion: Tc-99m DTPA diuretic renal scan with standardized protocol is useful in assessing suspected ureteropelvic junction obstruction in children as an initial diagnostic or post-operative follow-up modality. Nonobstructive or indeterminate scan results in the neonatal period requires follow-up scan to monitor development of the obstructive pattern.

• Childhood Kidney Diseases
• /
• v.7 no.1
• /
• pp.16-22
• /
• 2003

Purpose : Minimal Change Disease(MCD) is the most common primary nephrotic syndrome in children. Some suggested that tumor necrosis factor-${\alpha}$ ($TNF-{\alpha}$) are involved in the pathogenesis of MCD. This study was done to see the changes of plasma and urinary $TNF-{\alpha}$, and their effects on the permeability of glomerular basement membrane. Methods : Study patients consisted of 19 biopsy-proven MCD children aged 2-15 years old. Both plasma and urinary $TNF-{\alpha}$ were measured. Employing the Millicell system, $TNF-{\alpha}$ were screened for the permeability factors. Results : Urinary $TNF-{\alpha}$ during relapse was significantly increased(P<0.01). No significant change was seen in the plasma $TNF-{\alpha}$ during relapse when compared to those in remission and the healthy controls. Furthermore, in the in vitro Millicell system, $TNF-{\alpha}$ did not produce a significant change in albumin permeability. Conclusion : Therefore, it seems that $TNF-{\alpha}$ may not play a disease-specific role in the pathogenesis of MCD.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.1
• /
• pp.35-39
• /
• 2015

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common mitochondrial fatty acid oxidation disorder which is inherited as an autosomal recessive pattern. MCAD deficiency is caused by mutations in the ACADM gene; medium-chain acyl-CoA dehydrogenase gene (ACADM; OMIM 607008) on chromosome 1p31 which encodes MCAD, the mitochondrial enzyme which catalyzes the first reaction in beta-oxidation of fatty acids with medium-chain length. Here, we describe one Korean pediatric case of MCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of hexanoyl (C6), octanoyl (C8), decenoyl (C10:1) carnitine, and C8/C2 ratio was elevated. Homogenous c.1189T>A (p.Tyr397Asn) mutation of ACADM gene was identified by direct sequencing. He has been asymptomatic and has shown normal growth and development by 25 months of age without any intervention. There was no episode of metabolic acidosis during follow-up period.

• Korea journal of population studies
• /
• v.27 no.2
• /
• pp.1-34
• /
• 2004

최근 한국사회에서는 출산율의 저하로 인한 사회경제적 영향을 우려하여 대책방안을 강구하여야 한다는 논의가 증대되고 있다. 그런데 국가정책을 개발${\cdot}$추진하기 이전에 반드시 요구되는 것은 저출산 현상의 올바른 인식과 철저한 원인규명이다. 따라서 본 연구에서는 출산율 변화의 원인을 다각적으로 살펴보고, 향후 변화방향을 전망해 보고자 한다. 먼저 자녀출산의 변화를 결혼상태 변화와 유배우부인의 출산율 변화 부분으로 나누어 살펴본 결과, 과거와는 달리 최근의 출산율 저하는 유배우 부인에 의해서가 아니라 미혼자의 결혼연장 또는 독신생활에서 기인되는 것으로 나타났다. 이들 두 요인에 영향을 주는 변수로는 경기침체 및 직장불안정, 결혼가치관의 변화와 초혼연령의 상승, 자녀양육 관심증대, 자녀양육비 부담, 가정과 직장의 양립을 위한 사회적 인프라 부족, 여성의 자아욕구 및 사회참여 증대, 자녀효용가치 감소, 이혼 등 가족해체의 증대, 그리고 불임부부의 증대 등인 것으로 판단된다. 향후 출산율 변화를 전망해 보면, 저출산을 일찍 경험한 서구 선진국의 경우와는 달리 정책의 추진에 한계가 있어 선진국보다 더 낮은 출산율을 회복하는 데는 많은 어려움이 있을 것이라는 판단이다. 더군다나 젊은 미혼남녀의 가치관이 개인주의화 되는 경향이 있다는 점을 감안한다면 출산율 회복정책을 추진한다 하더라도 한계가 있을 수밖에 없을 것이다. 수년간 실시된 각종 실태조사를 분석한 결과에 의하면 현재의 경기침체가 회복될 경우 약 20%의 출산율 상승 가능성이 있으며, 이 때의 합계출산율은 약 1.43명 수준이 될 수 있을 것으로 예견된다. 또한 종합적 체계적 출산회복정책을 효과적${\cdot}$효율적으로 추진한다면 약 10년 후에는 합계출산율이 약 1.6 수준으로 회복될 것이라는 낙관적 견해를 가져본다. 그렇지만 정책의 강도에 따라서 회복수준은 현저하게 상이할 것이다.를 진단, 치료함에 있어 진행성 신질환의 가능성을 시사하는 예후인자가 없다면 신생검보다는 지속적이고 정기적인 추적관찰만으로도 충분할 것으로 생각된다도 등은 양군 사이에 유의한 차이가 관찰되지 않았다. 발견 당시 혈청 $C_3$치의 감소는 모두 11명(61.1%)에서 관찰되었는데, 증상군에서는 7명(87.5%), 집단뇨검사군에서는 4명(40%)으로 증상군에서 혈청 $C_3$치의 감소가 보다 현저하였다. 그러나 추적관찰 기간 동안 증상군에서는 7명 중 4명, 집단뇨검사군에서는 4명 중 1명에서 혈청 $C_3$치는 정상범위로 증가하여 최종 관찰시점에서는 6명 (33.3%)에서만 혈청 $C_3$치의 감소가 지속되고 있다. 혈청 $C_3$치의 감소를 보인 경우를 다시 병리조직학적 분류에 의해 세분하여보면 발병당시에는 I형 8명(61.5%), II형에 1명(100%), III형 2명(50%)에서 관찰되었는데, 최종 시점에서는 I형 4명(30.8%), II형 1명(100%), III형 1명(33.3%)이었다. 또한 증상군에서 세포성 반월체형성과 세뇨관위축의 빈도가 높았으며, 사구체 혈관벽 비후와 사구체 간질의 증가의 정도가 집단뇨검사군에 비해 통계적으로 유의하게 높았다. 결론: 무증상성 요이상을 가진 환자에서 신장조직검사 실시 후 MPGN으로 진단되는 증례가 증가하고 있고, 오히려 증상을 동반하는 경우보다 빈도가 증가한다는 사실은 집단뇨 검사에서 소변의 이상소견이 발견되어 신장 조직검사를 실시할 경우 혈청 $C_3$치의 감소 여부에 관계없이 MPGN도 진단적 고려 대상이 되어야 한다고 생각한다.신장 조직검사를 시행한 결과 진행성 경과를 취할 수 있는 막 증식성 사구체 신염과 매우 희귀한 증례인 신유전분증 등으로 진단됨으로써 지속성 단백뇨의 경우 정확 진단적 접근이 필수적임을 알 수

• Childhood Kidney Diseases
• /
• v.14 no.1
• /
• pp.51-61
• /
• 2010

Purpose : Previous studies have suggested that Chemokine (C-C motif) ligand-2 (CCL-2; also known as MCP-1) and CCL-5 (also known as RANTES) are possibly associated with the pathogenesis of various inflammatory and non-inflammatory renal diseases. The present study was conducted to investigate association of polymorphisms of CCL-2 and CCL-5 genes with childhood IgA nephropathy (IgAN). Methods : The authors analyzed six single nucleotide polymorphisms (SNPs) of CCL-2 and CCL-5 in 196 pediatric IgAN patients and in 285 healthy controls. We compared variations in SNPs between two several sets of IgAN subgroups, allocated by presence of proteinuria (>4 mg/$m^2$/hour), podocyte foot process effacement, and pathologically advanced disease markers, such as interstitial fibrosis, tubular atrophy, or global sclerosis. Results : Genotypic data of IgAN patients and controls showed no significant SNP frequency difference in both of of CCL-2 and CCL-5. Even though two linkage disequilibrium blocks were formed, there was no significance in the haplotype analysis. In the patient subgroup analysis, no SNP of CCL-2 and CCL-5 was found to be associated with the presence of proteinuria, podocyte foot process effacement, and pathologically advanced disease markers. Conclusion : Our data indicate that no association exists between CCL-2 and CCL-5 SNPs and childhood IgAN susceptibility, and presence of proteinuria, podocyte foot process effacement, and pathologic progression of IgAN.