소아기에 발병하는 염증성장질환(IBD)은 성인 IBD와 다른 질환인가? - 조기발병 소아 IBD의 역학적, 임상적, 유전학적 특성 및 치료 시 고려 사항-

서정기,Seo, Jeong-Kee 대한소아소화기영양학회 2011 Pediatric gastroenterology, hepatology & nutrition Vol.14 No.1

Inflammatory bowel disease (IBD) develops during childhood or adolescence in approximately 25% of patients with IBD. Recent studies on pediatric IBD have revealed that early-onset IBD has distinct phenotype differences compared to adult onset IBD. Pediatric early-onset IBD differs in many aspects including disease type, location of the lesions, disease behavior, gender preponderance and genetically attributable risks. This review examines the currently published data on the clinical, epidemiological and genetic differences between early-onset and adult-onset IBD. And finally, therapeutic considerations in the management of pediatric-onset IBD are also discussed.

윌슨병의 진단과 분자유전학적 검사

서정기,Seo, Jeong Kee 대한소아소화기영양학회 2008 Pediatric gastroenterology, hepatology & nutrition Vol.11 No.suppl1

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism that results in accumulation of copper primarily in the liver, the brain and the cornea. Mutations in the WD gene, ATP7B cause failure of copper excretion from hepatocyte into bile and a defective synthesis of ceruloplasmin. More than 370 mutations are now recognized, scattering throughout the ATP7B gene. Since WD has protean clinical presentations, awareness of WD in clinical practice is important for the early diagnosis and prevention of accumulated copper toxicity. None of the laboratory parameters alone allows a definite diagnosis of WD. There are numerous pitfalls in the diagnosis of WD. Low serum ceruloplasmin concentrations, increased 24 hour urinary copper excretion, increased hepatic copper concentrations and the presence of Kayser-Fleischer rings in the cornea are major diagnostic points. A combination of any two of these 4 laboratory findings is strong support for a diagnosis of WD. Molecular methods are now being used to aid diagnosis. Molecular genetic testing has confirmed the diagnosis in individuals in whom the diagnosis is not clearly established biochemically and clinically. Siblings should be screened for WD once an index case has been diagnosed. Discrimination of heterozygotes from asymptomatic patients is essential to avoid inappropriate lifelong therapy for heterozygotes. Genetic testing, either by haplotype analysis or by mutation analysis, is the only reliable tool for differentiating heterozygote carriers from affected asymptomatic patients. Currently, genetic testing is of limited value in the primary diagnosis. However, genetic testing will soon play an essential role in diagnosing WD as rapid advancement of biomedical technology will allow more rapid, easier and less expensive mutation detection.

소아의 Helicobacter pylori 감염

서정기,Seo, Jeong-Kee 대한소아소화기영양학회 1998 Pediatric gastroenterology, hepatology & nutrition Vol.1 No.1

윌슨 유전자의 돌연변이 분석: 한국 윌슨병 환자에서의 Arg778Leu 돌연변이

서정기,김종원,Seo, Jeong-Kee,Kim, Jong-Won 대한소아소화기영양학회 1999 Pediatric gastroenterology, hepatology & nutrition Vol.2 No.2

Background: Wilson disease (WD) is an autosomal recessive disorder of copper transport and characterized by degenerative changes in the brain, liver dysfunction, and Kayser-Fleischer rings due to toxic accumulation of copper. Since the identification of Wilson disease gene (ATP7B), more than 80 mutations have been detected among the different ethnic groups. Methods: Twenty three children with Wilson disease were included in this study. They were all diagnosed by low serum ceruloplasmin and increased 24 hour urinary copper excretion with characteristic clinical findings. We analysed WD gene mutation by assessing the nucleotide sequence of exon 7, 8, 9 and 10 including intron-exon boundaries of ATP7B gene from genomic DNA. Results: Arg778Leu mutation was identified in 16 WD patients; three were homozygous and 13 were heterozygous for this mutation. Of the 46 alleles, 19 alleles had a Arg778Leu mutation (19/46=41%). Homozygote patients had neurologic forms of WD. Arg778Leu mutation was not found among 50 normal healthy persons. Conclusion: Arg778Leu mutation is a common mutation in Korean WD gene. Arg778Leu mutation screening might be used as a useful supplementary diagnostic test in some patients to confirm Wilson disease in Korea.

PARALLEL SYMPOSIUM 2 : Wilson`s Disease: Molecular Genetics and a Paradigm Shift of the Diagnostic Strategy

서정기 ( Jeong Kee Seo ) 대한간학회 2013 춘·추계 학술대회 (KASL) Vol.2013 No.1

Wilson`s disease (WD) is the most common inherited liver disease with a prevalence of 1: 37,000 in Korean population. Mutations in the WD gene, ATP7B, cause the functional loss as a copper transporter and result in impairment of hepatic biliary copper excretion and also copper incorporation into apo-ceruloplasmin. Lifelong accumulations of copper lead to fatal hepatic failure or severe neurologic deterioration and death. More than 500 ATP7B mutations are now recognized. There seems to be some differences among various mutations in the failure of copper dependent trafficking pathway and copper transport defects to apo-ceruloplasmin at the molecular level. Further studies are needed to confirm the correlation of diverse manifestations of WD with these molecular level differences. Low serum ceruloplasmin concentrations, increased 24 hour urinary copper excretion, increased hepatic copper concentrations and the presence of Kayser-Fleischer rings in the cornea are major diagnostic points. Because of the absence of single laboratory test for the definite diagnosis and protean clinical presentations of WD, early diagnosis is not easy particularly in patients who do not meet the diagnostic criteria of the copper related conventional laboratory tests. Recently, molecular genetic testing is playing an increasingly important role in the diagnosis of WD in uncertain cases and family screening. Genetic testing, either by haplotype analysis or by mutation analysis, is the only definite solution for differentiating heterozygote carriers from affected asymptomatic patients. Because advancement of modern biochemical technology now allows more rapid, easier, and less expensive mutation detection, direct DNA sequencing could be actively considered as the primary mode of diagnostic investigation rather than a supplementary test to the conventional laboratory tests.

구연발표 : 소아 연령에서의 만성 염증성 장질환

서정기(Jeong Kee Seo),지제근(Je Geun Chi),연경모(Kyung Mo Yeon) 대한소화기학회 1988 대한소화기학회 추계학술대회 Vol.1988 No.-

경색관련 관동맥의 잔여 협착 진단에 있어 조기 부하 심근 SPECT에 대한 관동맥 조영검사 및 심근 분획 혈류 예비력과의 비교 평가

서정기(Jeong Kee Seo),권준(Jun Kwan),김대혁(Dae Hyeok Kim),양성식(Sung Sik Yang),이기훈(Ki Hoon Lee),현인영(In Young Hyun),최원식(Won Sick Choe),이효정(Hyo Jung Lee),박금수(Keum Soo Park),이우형(Woo Hyung Lee) 대한내과학회 2001 대한내과학회지 Vol.60 No.2

N/A Background : The detection of residual stenosis of infarct related artery (IRA) at early stage after acute myocardial infarction (AMI) is crucial in clinical decision making for interventional revascularization. The aim of this study was to evaluate the relevancy of early dipyridamole stress myocardial SPECT to detect functionally and luminologically significant residual stenosis of IRA after AMI. Methods : Twenty five consecutive patients (M:F=19:6, age: 56±13yrs) with AMI were underwent SPECT and coronary angiography within 5 days of the attack. Infarct related arteries with FFR < 0.75 and diameter stenosis (DST) >70% were regarded to have functionally and morphologically significant residual stenosis. Reversible perfusion defect was defined if there was improvement of pefusion score more than one grade in infarct segments on rest images of SPECT compared with stress images. Results : Mean FFR and DST were 0.76±0.14 and 74±15%. SPECT showed no significant correlation with both FFR and DST with Kendall's coefficiency of 0.28 (p=0.05) and 0.13 (p=0.35). The sensitivity and specificity of SPECT to detect functionally and morphologically significant residual stenosis were 92%, 31% and 83%, 29%. Conclusion : The early dipyridamole stress myocardial SPECT after AMI dose not seem to be a useful non-invasive test for the detection of functionally and luminologically significant residual stenosis of IRA.(Korean J Med 60:106-114, 2001)

혈관내 초음파 검사로 관찰한 보상성 혈관 재구성 ( Adaptive Arterial Remodeling ) 과 불충분 혈관 재구성 ( Inadequate Arterial Remodeling ) 의 비교

서정기(Jeong Kee Seo),박금수(Keum Soo Park),홍의수(Eui Soo Hong),김대혁(Dae Hyeok Kim),이효정(Hyo Jung Lee),조성욱(Seong Wook Cho),권준(Jun Kwan),이우형(Woo Hyung Lee) 대한내과학회 1999 대한내과학회지 Vol.56 No.6

N/A Objectives : Adaptive arterial remodeling (AAR) is a process to maintain luminal patency despite atherosclerotic plaque accumulation, whereas some of the lesions undergo a negative remodeling (vessel shrinkage), namely inadequate arterial remodeling (IAR). Histopathologic and intravascular ultrasound (IVUS) studies have shown lumen compromise is delayed until the atherosclerotic lesion occupies more than an estimated 40% to 50% of the potential area within the internal elastic lamina and proposed contributors to lumen compromise are medial and adventitial damage, superficial calcification, apoptosis. However the precise mechanisms and factors leading to these two vascular remodeling patterns are still unclear. The aim of this study is to investigate the effect of plaque accumulation on compensatory dilatation in arterial remodeling and their relationship according to their remodeling patterns. Methods : Preinterventional intravascular ultrasound images of 56 focal, de novo native and nonosteal lesions on coronary angiography were obtained. Cross sectional area of external elastic membrane (LEEM), Minimal lumen (MLA) and plaque plus media (P&M; P&M=EEM- MLA) in the target lesions were measured. Cross sectional area of external elastic membrane (REEM) and lumen (RLA) in proximal reference segments were measured. The lesions were divided into two groups according to their remodeling patterns ; adequate arterial remodeling (LEEM/REEM>0.78) and inadequate arterial remodeling (LEEM/REEM≤0.78). Results : 1) Forty-three patients (34 men, 9 women; mean age 58±11 years) who had not undergone previous coronary intervention were studied. 2) Adaptive arterial remodeling was observed in 47 (84%) of 56 lesions and inadequate arterial remodeling in 9 (16%). 3) No significant difference of clinical diagnosis, risk factors including hypertension, diabetes mellitus, smoking and lipid profiles was found between AAR and IAR group. 4) P&M/RLA of AAR was significantly higher than that of IAR (1.21±0.41 vs 0.91±0.23; p<0.001), whereas reference area stenosis (r-AST%) of AAR was significantly lower than that of IAR (59.8±23.0 vs 80.1±9.5; p<0.001). 5) In AAR group, P&M/RLA showed more significant correlation with LEEM/REEM (r=0.66, p<0.001) than r-AST% (r=0.36, p<0.05). 6) In IAR group, P&M/RLA showed significant correlation with r-AST% (r=0.79, p<0.05) but no correlation with LEEM/REEM (r=0.07, p>0.05). Conclusion : In adaptive arterial remodeling, the amount of plaque accumulation seems to be an important determinant of compensatory arterial dilatation and contribute weakly to stenosis severity. On the contrary, in inadequate arterial remodeling, it seems to contribute greatly to stenosis severity.

윌슨병: 진단과 치료의 최근 동향(해설논문(Review Article))

서정기 ( Jeong Kee Seo ) 대한간학회 2006 Clinical and Molecular Hepatology(대한간학회지) Vol.12 No.3

소아기의 (小兒期) 비 Virus 성 간염 (肝炎)

서정기(Jeong Kee Seo),문형노(Hyung Ro Moon) 대한소화기학회 1983 대한소화기학회지 Vol.15 No.2

N/A Seventeen patients(13 males and 4 females) with Wilson's disease presenting with hepatic involvement were reviewed. The mean duration from onset of symptom to diagnosis was 6 months(range; 5 days to 3 ,years). The earliest age at onset of hepatic manifestations was 5 years. In two asymptomatic cases who were the siblings of the patients and investigated for Wilsons disease, Wilson's disease with elevated transaminase were confirmed at the age of 2 years and 4 years respectively. On admission 4 patients presented with acute viral hepatitis, and 6 patients presented with chronic hepatitis. Four patients presented with asymptomatic hepatomegaly or splenomegaly. Jaundice was the initial manifestation in 10 patients, 3 of whom were in fulminant hepatic failure and also had evidences of hemolysis and possible sepsis. Neurologic dysfunctions such as tremor, disturbances in speech, walking and writing and fine motor incoordination were evident in only 2 patients(age: 15 years both) and one of whom presented with hematemesis. Kayser-Fleischer rings were found in 10 patients(mean age; 9.8 years). The serum ceruloplasmin was normal in 2 patients, whose 24 hour urine copper were 121.7 pg and 1, 285 pg, respectively. Elevation of serum bilirubin was observed in 10 patients and elevation of s rum GPT was observed in 12 patients. Prolonged prothrombin time(below 60%) was found 7 in 15 patients. Reticulocyte count was elevated significantly in 5 patients. Twenty hour urine copper excretion was elevated in all cases(range; 121.7 pg-3,526 pg) Despite D-penicillamine therapy 3 patients died within 3 weeks after diagnosis from fulminant hepatic failure associated with hemolysis, hepatorenal syndrome and possible E. coli sepsis. A sustained improvement was observed in remaining patients with D-penicillamine therapy. If diagnosis of Wilsons disease may be delayed and once hepatic failure is established, this form of Wilson's disease can have a poor prognosis despite D-penicillamine therapy. It is essential therefore, that the diagnosis of Wilsons disease be excluded in all patients with idiopathic hepatitis in children, so that an optimum treatment response to D-penicillamine can be achieved.