유전 의심성 비용종증 대장암의 빈도와 임상적 특성

양석균(Suk Kyun Yang),명승재(Seung Jae Myung),정훈용(Hwoon Yong Jung),홍원선(Weon Seon Hong),김진호(Jin Ho Kim),심기남(Ki Nam Shim),최재원(Jae Won Choe),김해경(Hae Kyung Kim),박무인,이미헌(Mi Hun Lee),김동일(Dong Il Kim),박의련(Eui Ryun 대한내과학회 2001 대한내과학회지 Vol.60 No.6

N/A Background: The current diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) is dependent on a detailed family history based on the Amsterdam criteria proposed by the International Collaborative Group on HNPCC (ICG-HNPCC) in 1990. On recognizing the shortcomings of the ICG-HNPCC criteria, the Korean Hereditary Colorectal Cancer Registry (a subdivision of the Korean Hereditary Tumor Registry) designated the term uspected HNPCC for families who do not fullfill the criteria of the ICG-HNPCC but in whom a genetic basis for colon cancer is strongly suggested. The present study was designed to determine the frequency and define the clinical characteristics of suspected HNPCC. Methods: We analysed the clinical characteristics of 42 suspected HNPCC patients and their family members and compared these characteristics with that of 1,692 non-hereditary colorectal cancer patients. Results : The frequency of suspected HNPCC was 2.4% in our study. The mean age of suspected HNPCC patients at the time of diagnosis was 45.1±9.6 years and that of non-hereditary colorectal cancer patients was 57.4±11.9 years. The incidence of synchronous colorectal cancers in HNPCC was 7.1% and that of non-hereditary colorectal cancers was 0.9%. In suspected HNPCC families, 18 patients had extracolonic malignancies and the stomach cancer was the most common (55.5%). Conclusion : The frequency of suspected HNPCC among total colorectal cancer cases was 2.4% in our study. Tumors in suspected HNPCC differed from non-hereditary colorectal cancers in an early age of onset.(Korean J Med 60:507-513, 2001)

특징적인 배변조영술과 MR defecography 소견을 보인 고립성 직장궤양

송혜경 ( Hye Kyung Song ),명승재 ( Seung Jae Myung ),양석균 ( Suk-Kyun Yang ),이진혁 ( Jin Hyuk Lee ),박경민 ( Kyoung Min Park ),장혜숙 ( Hye Sook Chang ),윤인자 ( In Ja Yoon ),권오련 ( Oh Ryoun Kwon ),고정은,홍원선 ( Weon Seon Ho 대한소화기기능성질환·운동학회 2003 Journal of Neurogastroenterology and Motility (JNM Vol.9 No.1

Solitary rectal ulcer syndrome is an uncommon, chronic benign condition characterized by rectal bleeding, the passage of mucus, tenesmus and excessive straining during defecation. Occasionally, solitary rectal ulcer syndrome has been reported to be associ

한국인의 궤양성 대장염 연관 대장암의 현황 대한장연구학회 다기관 공동연구

장동경 ( Dong Kyung Chang ),김영호 ( Young Ho Kim ),변정식 ( Jeong Sik Byeon ),양석균 ( Suk Kyun Yang ),정용우 ( Yong Woo Chung ),한동수 ( Dong Soo Han ),김상균 ( Sang Gyun Kim ),김태일 ( Tae Il Kim ),김원호 ( Won Ho Kim ),진윤태 대한소화기학회 2005 대한소화기학회지 Vol.46 No.4

일란성 쌍둥이에서 발생한 크론병 1예

박수경 ( Soo Kyung Park ),김경조 ( Kyung Jo Kim ),예병덕 ( Byong Duk Ye ),변정식 ( Jeong Sik Byeon ),명승재 ( Seung Jae Myung ),양석균 ( Suk Kyun Yang ),김진호 ( Jin Ho Kim ),지현숙 ( Hyun Sook Chi ) 대한소화기학회 2010 대한소화기학회지 Vol.55 No.1

Although the incidence and prevalence rates of IBD in Korea are still lower than Western populations, they have been increasing rapidly during the past decades. Crohn`s disease (CD) tends to run in families because it is thought to be related to genetic susceptibility coupled with environmental factors. A large number of monozygotic and dizygotic twin pairs with inflammatory bowel disease have been reported in western countries. The population relative risk in first-degree relatives is considered to be about equal in both Koreans and westerners. To our best knowledge, there is no report in monozygotic twins with CD in Korea. This case report is the first documented occurrence of concordant CD occurring in monozygotic twins in Korea. (Korean J Gastroenterol 2010;55:68-72)

한국인에서 크론병과 Toll-Like Receptor 유전자의 연관성

예병덕 ( Byong Duk Ye ),양석균 ( Suk Kyun Yang ),송규영 ( Kyu Young Song ),양동훈 ( Dong Hoon Yang ),윤순만 ( Soon Man Yoon ),김경조 ( Kyung Jo Kim ),변정식 ( Jeong Sik Byeon ),명승재 ( Seung Jae Myung ),김진호 ( Jin Ho Kim ) 대한소화기학회 2009 대한소화기학회지 Vol.54 No.6

목적: Toll-like receptor (TLR)는 병원균의 특정한 분자 패턴을 인지하는 패턴 인지 수용체로 작용하여 친염증성 사이토카인 분비를 매개한다. 최근 서구에서 수행된 몇몇 연구들에서 TLR이 크론병의 감수성 유전자로 밝혀졌다. 이에 연구자들은 한국인에서 크론병과 TLR4 및 TLR9 유전자 변이의 관계를 규명하고자 하였다. 대상 및 방법: 380명의 크론병 환자와 380명의 대조군에서 TLR4 Asp299Gly (rs4986790), Thr399Ile (rs4986791) 및 TLR9 -1237T/C (rs5743836) 유전자형을 분석, 양 군 간에 비교하였다. 결과: TLR4 Asp299Gly 및 TLR9 -1237T/C 유전자형 분석을 시행한 크론병 환자 중 유전자 변이를 보인 환자는 없었다. 또한 TLR4 Thr399Ile 유전자형 분석을 시행한 모든 피험자에서도 유전자 변이는 확인되지 않았다. 결론: 이 연구 결과는 한국인에서 TLR4 및 TLR9의 주요 유전자 변이는 드물고, 또한 크론병 감수성과도 연관성이 없음을 시사한다. Background/Aims: Toll-like receptors (TLRs) serve as pattern recognition receptors that recognize specific molecular patterns of pathogens and can mediate the production of proinflammatory cytokines. Recently, TLRs have been identified as susceptibility genes for Crohn`s disease (CD) in several studies from Western populations. We investigated the association of genetic variations in TLR4 and TLR9 with CD in Korean population. Methods: In 380 CD cases and 380 healthy controls, we performed genotyping for TLR4 Asp299Gly (rs4986790) and Thr399Ile (rs4986791). The genetic variations in the TLR9-1237T/C (rs5743836) were also examined. Results: Among CD patients genotyped for TLR4 Asp299Gly and TLR9-1237T/C, none had variant alleles. Similarly, none of the subjects genotyped for TLR4 Thr399Ile showed genetic variations. Conclusions: Our results indicate that the major genetic variations in TLR4 and TLR9 are rare and may not be associated with susceptibility to CD in Koreans. (Korean J Gastroenterol 2009;54:377-383)

한국인 크론병에 대한 Infliximab의 효과

김세희 ( Sai Hui Kim ),양석균 ( Suk Kyun Yang ),김경조 ( Kyung Jo Kim ),김은희 ( Eun Hee Kim ),윤순만 ( Soon Man Yoon ),예병덕 ( Byong Duk Ye ),변정식 ( Jeong Sik Byeon ),명승재 ( Seung Jae Myung ),김진호 ( Jin Ho Kim ) 대한소화기학회 2009 대한소화기학회지 Vol.54 No.2

Background/Aims: Infliximab has been proven to be effective for refractory luminal and fistulizing Crohn`s disease (CD). We performed this study to demonstrate the efficacy of infliximab in Korean CD patients. Methods: Medical records of 40 CD patients who had been treated with infliximab were reviewed retrospectively. Results: Among 40 patients, 11 (27.5%) patients were treated for refractory luminal disease, 14 (35%) for fistulizing disease, and 15 (37.5%) for both types. Clinical response rate was higher in 26 patients with refractory luminal disease (Complete response (CR), 73.1%; Partial response (PR), 23.1%) than in 29 patients with fistulizing disease (CR, 41.4%; PR, 31%) (p=0.024). The clinical response rate tended to be higher in 28 patients with external fistulas (CR, 46.4%; PR, 32.2%) than 4 patients with internal fistulas (PR, 25%; NR, 75%) (p=0.064). Among patients with external fistulas, the response rate of 8 patients with enterocutaneous fistulas (CR, 50%; PR, 12.5%) was not different from 20 patients with perianal fistulas (CR, 45%; PR, 40%). Among 20 patients with perianal fistulas, the response rate of 6 patients with perianal fistulas without a history of operation (CR, 83.3%; PR, 0%) was higher than 14 patients with perianal fistulas resistant to previous surgical treatment (CR, 28.6%; PR, 57.1%) (p=0.044). As for adverse reaction, 7 patients experienced mild infusion reaction, and 2 patients developed serious infection. Conclusions: Infliximab is more effective for refractory luminal disease than for fistulizing disease. In addition, clinical responses to infliximab are different according to subtypes of fistulas. These findings should be considered for the proper use of infliximab. (Korean J Gastroenterol 2009;54:108-116)

한국인 크론병 환자에서 Azathioprine/6-Mercaptopurine 치료의 안전성과 유용성

이현주 ( Hyun Ju Lee ),양석균 ( Suk Kyun Yang ),김경조 ( Kyung Jo Kim ),최재원 ( Jae Won Choe ),윤순만 ( Jae Won Choe ),예병덕 ( Byong Duk Ye ),변정식 ( Jeong Sik Byeon ),명승재 ( Seung Jae Myung ),김진호 ( Jin Ho Kim ) 대한장연구학회 2009 Intestinal Research Vol.7 No.1

Background/Aims: This study aimed to evaluate the adverse events and efficacy of azathioprine (AZA) and 6-mercaptopurine (6-MP) in Korean patients with Crohn’s disease (CD). Methods: We retrospectively analyzed 700 patients with CD (male:female=469:231; median age at diagnosis, 22 years; agerange, 9-74 years) who were treated at the Asan Medical Center between January 1997 and January 2006. Results: Of 700 patients, 372 (53.1%) were treated with AZA/6-MP. The cumulative rates of AZA/6-MP treatment at 1, 5, 10, and 20 years were 17.4%, 51.6%, 73.1%, and 94.5%, respectively. Of 372 patients treated with AZA/6-MP, 217 patients (58.3%) experienced 291 adverse events, requiring discontinuation of therapy in 41 patients (11%). Nausea occurred in 120 patients (32.3%) and led to discontinuation of therapy in 11 patients (3.0%). Leukopenia developed in 116 patients (31.2%), requiring dose adjustments in 100 patients (26.9%) and discontinuation of medications in 16 patients (4.3%). Other adverse events included infections (2.7%), abnormal liver function tests (2.7%), fever (0.8%), hair loss (0.8%), arthralgias (0.5%), pancreatitis (0.5%), headaches (0.5%), and skin rashes (0.3%). Complete corticosteroids withdrawal was achieved in 70.9% of the patients based on an intention-to-treat analysis. The remission rate of perianal fistulas was 32.6%. Conclusions: The risk of leukopenia by AZA/6-MP is higher in Korean patients with CD than in Western patients. Although the adverse events of AZA/6-MP are not uncommon in Korean patients with CD, the actual discontinuation rate of the treatment is low. Therefore, AZA/6-MP can be administered to most Korean patients with CD without serious adverse events. (Intest Res 2009;7:22-31)

한국인 크론병 환자에서 치루의 발생 빈도와 자연 경과

김자영 ( Ja Young Kim ),양석균 ( Suk Kyun Yang ),변정식 ( Jeong Sik Byeon ),명승재 ( Seung Jae Myung ),최재원 ( Jae Won Choe ),조지윤 ( Ji Yun Jo ),양동훈 ( Dong Hoon Yang ),조윤경 ( Yun Kyung Cho ),김진호 ( Jin Ho Kim ) 대한장연구학회 2006 Intestinal Research Vol.4 No.1

목적: 치루는 크론병의 흔한 합병증으로서 서양의 연구에서는 발생빈도가 13-38%로 보고되었다. 본 연구는 한국인 크론병 환자에서 치루의 발생빈도와 자연경과를 밝히기 위해 시행되었다. 대상 및 방법: 1989년 6월부터 2005년 2월 사이에 서울아산병원 염증성 장질환 클리닉에서 진료받은 613명의 환자들 중 2개월 미만의 추적관찰을 한 경우를 제외한 총 546명을 대상으로 치루에 대한 자료를 수집하였다. 결과: 전체 546명의 환자(남자 355명, 여자 191명) 중 265명(48.5%)에서 355회의 치루가 발생하였다. 크론병의 다른 증상 없이 첫 증상으로 치루가 나타난 환자는 82명(15.0%)이었고, 치루가 발생한 265명 중 205명(77.4%)은 크론병 진단 이전 또는 진단 당시 치루가 있었다. 치루의 누적 발생률은 1년에 40.7%, 5년에 48.2%, 10년에 55.3%, 20년에 62.1%였다. 치루의 치료에 있어서 내과적 치료는 첫 번째 발생한 치루의 경우는 22.6%에서, 재발한 치루도 포함하여 계산할 경우는 30.7%에서 행해졌다. 또한 첫 번째 발생한 치루에 대한 수술률은 87.5%였으며, 재발한 치루도 포함하여 계산할 경우 수술률은 80.8%였다. 치료 성공률은 내과적 치료의 경우 첫 번째 발생한 치루의 경우는 21.7%, 재발한 치루까지 포함한 경우는 23.9%였고, 외과적 치료의 경우는 각각 84.5%, 83.6%였다. 265명의 치루 환자 중 77명(29.1%)에서 2회 이상 치루가 발생하였으며, 치루의 누적 재발률은 1년에 10.1%, 5년에 26.9%, 10년에 42.4%, 20년에 68.8%였다. 결론: 한국인 크론병 환자에서 치루의 발생률은 서양의 보고에 비해 높은 것으로 보인다. 특히 크론병의 진단에 앞서 치루가 나타나는 빈도가 매우 높으므로 치루 환자에서 크론병의 가능성을 염두에 둔다면 크론병 진단까지의 기간을 줄일 수 있겠고, 적절한 치료를 통해 항문협착과 같은 심각한 합병증의 발생도 낮출 수 있을 것으로 생각한다. Background/Aims: We performed this study to investigate the incidence and natural history of perianal fistulas in Korean patients with Crohn`s disease (CD). Methods: A total of 546 patients diagnosed with CD at Asan Medical Center were included. Results: Perianal fistulas occurred in 265 patients (48.5%), with 355 episodes. Eighty-two patients (15.0%) initially presented with perianal fistulas in the absence of other symptoms suggestive of CD. Out of 265 patients who developed perianal fistulas, 205 (77.4%) presented with perianal fistulas before, or at the time of, the diagnosis of CD. The cumulative incidence of perianal fistulas at 1, 5, 10, 20 years was 40.7%, 48.2%, 55.3% and 62.1%, respectively. Medical treatment was done in 30.7%, and surgery in 80.8% of perianal fistulas. The remission rate was 23.9% with medical treatment, and 83.6% with surgery. At least 1 recurrent fistula occurred in 77 patients (29.1%). The cumulative recurrence rate of perianal fistulas at 1, 5, 10, 20 years was 10.1%, 26.9%, 42.4% and 68.8%, respectively. Conclusions: The incidence of perianal fistulas in Korean patients with CD appears to be higher than that of Western patients. Also, the proportion of patients who develop perianal fistulas before the diagnosis of CD is very high. Therefore, we should consider the possibility of CD in patients with perianal fistulas to manage them properly, and thereby to reduce there complications. (Intestinal Research 2006;4:22-31)

소화기 ; 단일 의료기관에서 경험한 자발성 장벽내 혈종 14예에 대한 임상적 고찰

양동훈 ( Dong Hoon Yang ),김진호 ( Jin Ho Kim ),박성호 ( Seong Ho Park ),양석균 ( Suk Kyun Yang ),변정식 ( Jeong Sik Byeon ),명승재 ( Seung Jae Myung ),김경조 ( Kyung Jo Kim ),예병덕 ( Byong Duk Ye ),고창옥 ( Chang Ok Koh ),윤순민 대한내과학회 2010 대한내과학회지 Vol.79 No.5

목적: 자발성 장벽내 혈종은 대부분 항응고 치료의 드문 합병증으로 발생하며, 최근 항응고제 사용 증가로 이 질환의 빈도도 증가할 것으로 추정된다. 저자들은 자발성 장벽내 혈종의 임상적 특징과 예후에 대해 분석하고자 하였다. 방법: 2001년 3월부터 2009년 2월까지 서울아산병원에서 특징적 CT 소견으로 자발성 장벽내 혈종으로 진단 후 치료받은 14예의 의무기록을 후향적으로 분석하였다. 결과: 환자들의 연령 중앙값은 67세였고, 심방세동, 심장판막 치환술, 허혈성 뇌졸중 등의 동반 질환을 가지고 있었으며, 모두 항응고제를 복용하고 있었다. 발현 증상은 복통(14명), 구역/구토(9명), 흑색변/혈변(8명) 등이었다. 내원 시 international normalized ratio (INR)의 중앙값은 7.7 (1.6~15.1이상)이었고, 13명(93%)에서 INR이 3.5 이상이었다. 하행결장에 발생한 1예를 제외하고 모두 소장에 발생하였는데, 공장 및 회장이 각각 7명, 4명으로 호발 부위였다. 금식 및 항응고제 중단, 신선동결혈장과 비타민 K 투여를 통한 응고장애 교정 등 보존 치료로 모두 호전되었다. 증상 호전과 응고장애 교정 후 12명에서 항응고 치료를 재개하였고, 평균37.4개월의 추적 기간 동안 재출혈 등 합병증은 발생하지 않았다. 결론: 자발성 장벽내 혈종은 주로 항응고제 과다 사용 시발생하였고, 보존 치료로 빠르게 호전되었으며, 항응고 치료재개 후에도 재출혈 등의 합병증은 없었다. 추후 대규모 연구를 통해 항응고 치료 재개의 안전성 및 재개 시점에 대한 확인이 필요하다. Background/Aims: Spontaneous intestinal intramural hematoma is a rare complication occurring most commonly in patients receiving anticoagulant therapy. The present study aimed to analyze the clinical features and prognosis of this condition. Methods: We retrospectively analyzed the medical records of 14 patients who were diagnosed with spontaneous intestinal intramural hematoma based on characteristic computed tomography findings and treated for this condition at Asan Medical Center from March 2001 to February 2009. Results: The median age of patients was 67 years. All patients were receiving anticoagulant therapy. The most common presenting symptoms were abdominal pain (14 patients), nausea/vomiting (9 patients), and melena/hematochezia (8 patients). The median international normalized ratio (INR) was 7.7 (1.6- >15.1). The INR was above 3.5 in 13 patients (93%). Hematomas most commonly involved the jejunum (7 patients), followed by the ileum (4 patients). All patients rapidly recovered without short-term complications after medical treatment, including correction of coagulation abnormalities. Twelve patients resumed anticoagulant therapy after symptomatic resolution and correction of coagulation abnormalities, and no complications, including rebleeding, occurred during the mean 37.4 months of follow-up. Conclusions: Spontaneous intestinal intramural hematoma rapidly improved after medical treatment, and no complications occurred. It may be safe to carefully resume anticoagulant therapy in patients at high risk of thromboembolism. (Korean J Med 79:518-525, 2010)

대장용종의 임상적 고찰

이동희(Dong Hee Lee),조문경(Moon Kyung Cho),유창식(Chang Sik Yu),김희철(Hee Cheol Kim),정훈용(Hoon Yung Jung),양석균(Suk Kyun Yang),강경훈(Kyung Hoon Kang),김진천(Jin Cheon Kim) 대한소화기학회 2000 대한소화기학회지 Vol.36 No.3

Background/Aims: The aim of our study was to analyze clinicopathological features of the colonic polyps. Methods: A retrospective analysis was performed to investigate colonic findings such as size, location, number, histopathological type, recurrence, and incidence of colorectal cancer in 1202 patients with colonic polyps from June 1989 to June 1998. Results: In histopathological findings, tubulovillous and villous adenoma were prevalent in large sized ( 1.0 cm) polyps, hyperplastic polyp and tubular adenoma in small sized ( 1.0 cm) polyps, respectively. (P<0.05). The incidence of carcinoma in situ was 6.2%, which was positively related with age over than 50 years, polyp size over 1.0 cm, multiplicity, adenoma with villous components. Recurrence rate after polypectomy was 18.3%. The most of recurrence was occurred within 24 months and prevalent in male, over than 50 years, ≥2.0 cm in size, multiplicity, adenomas than hyperplastic polyp. Conclusions: The results of this study suggest that patients age, and size, multiplicity, and histopathological type of are important risk factors of colorectal cancer. Most patients with polyps should undergo colonoscopy to excise the polyps for preventing colorectal cancer. Also, follow-up after polypectomy or surgery is necessary for the individual risk assessment of patients. (Kor J Gastroenterol 2000;36:302 - 316)