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- 주제어 : Juvenile polyposis (검색결과 10 건)
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소아 대장용종증 환자의 임상양상 및 내시경적, 조직학적 소견
임미선,서정기,고재성,양혜란,강경훈,김우선,Lim, Mi-Sun,Seo, Jeong-Kee,Ko, Jae-Sung,Yang, Hye-Ran,Kang, Gyeong-Hoon,Kim, Woo-Sun 대한소아소화기영양학회 2010 Pediatric gastroenterology, hepatology & nutrition Vol.13 No.2
Purpose: Colonic polyposis is less common in children than in adults. The clinical data pertaining to colonic polyposis in children are limited. Children with colonic polyposis have complications associated with numerous polyps, malignant transformation of the polyps, and extraintestinal neoplasms. We studied the clinical spectrum, endoscopic characteristics, and histologic findings of colonic polyposis in Korean children. Methods: We reviewed the clinical data of 37 children with multiple colonic polyps between 1987 and 2009. The mean age at the time of diagnosis of colonic polyposis was 8.0${\pm}$3.2 years. Results: Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis (FAP), and lymphoid polyposis was diagnosed in 22, 7, 6, and 2 children, respectively. The most common clinical presentation in children with colonic polyposis was hematochezia. A family history of colonic polyposis was noted in 7 children. The colonoscopic findings of colonic polyposis varied with the size and number of polyps. The majority of polyps were multi-lobulatd and pedunculated in children with Peutz-Jeghers syndrome. The polyps in children with juvenile polyposis syndrome were primarily round and pedunculated. For the children with FAP, the colon was carpeted with small, sessile polyps. There were multiple sessile polyps in the patients with lymphoid polyposis. Surgical polypectomy was performed in 14 children (38%). Intestinal segmental resection was performed in 13 children (35%). Four patients with FAP underwent total colectomy. Four children with Peutz-Jeghers syndrome had extraintestinal neoplasms. No malignant transformation of polyp was identified. Conclusion: Children with colonic polyposis should undergo a careful initial evaluation and require periodic re-evaluation.
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김기현,진윤태,금보라,남승주,오초롱,박진용,송종규,최우석 대한소화기내시경학회 2009 Clinical Endoscopy Vol.38 No.1
Juvenile Polyposis Syndrome is a rare condition that is characterized by the development of multiple polyps in the gastrointestinal tract. It is a hamartomatous disorder that was first described in families in 1964. Both sporadic and familial cases with autosomal dominant inheritance have been reported on. Juvenile Polyposis Syndrome is regarded as a distinct from the solitary juvenile polyps that develop in 2% of children and adolescents, and the latter have no malignant potential. We report here on a case of Juvenile Polyposis Syndrome in an 18 year old male along with a review of the relevant literature. The patient had various numbers of different sized pedunculated polyps that were observed throughout the entire gastrointestinal tract. 연소성 용종증(juvenile polyposis)은 위장관내에 발생하는 과오종성 용종을 특징으로 하는 드문 질환이다. 연소성 용종은 산발성, 또는 상염색체 우성의 유전 형태를 가지는 가족성으로 발생할 수 있고, 주로 남자에 많고, 10세 이하의 소아에서 호발하지만 드물게 성인에서 발견 되기도 하며, 직장 출혈이 주증상이다. 대부분이 원위부 대장, 특히 항문연으로부터 20 cm 이내에서 90% 이상이 발생하는 것으로 알려져 있다.2-3 국내에서도 성인에서 진단된 연소성 용종증에 대한 보고가 있었고 대부분이 원위부 대장을 침범하였다. 저자들은 혈변을 주소로 내원한 18세 남자에서 원위부 대장뿐 아니라 전체 위장관에 걸쳐 다발성 과오종성 용종증을 보였던 연소성 용종증 1예를 진단하고 치료하였기에 보고한다.
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강보영,한승정,이지은,최선근,김준미,홍영진,손병관,Kang, Bo-Young,Han, Seung-Jeong,Lee, Ji-Eun,Choi, Sun-Kun,Kim, Jun-Mi,Hong, Young-Jin,Son, Byong-Kwan 대한소아소화기영양학회 2003 Pediatric gastroenterology, hepatology & nutrition Vol.6 No.2
Juvenile polyposis is an uncommon condition characterized by the development of multiple juvenile polyps predominantly in the colon but also in the rest of the gastrointestinal tract. Patients with juvenile polyposis commonly present with rectal bleeding, diarrhea, abdominal pain, anemia, prolapse of the polyp. We experienced a juvenile polyposis in a 7 year-old male patient with protein losing enteropathy who was diagnosed by $^{99M}Tc$-human serum albumin abdominal scintigraphy, colonoscopy, and small bowel series. Proctocolectomy with ileostomy was performed and then protein losing enteropathy was resolved.
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( Myung Jin Jee ),( Soon Man Yoon ),( Eui Joong Kim ),( Hyun Jung Choi ),( Jong Won Kim ),( Ro Hyun Sung ),( Joung Ho Han ),( Hee Bok Chae ),( Seon Mee Park ),( Sei Jin Youn ) 대한소화기기능성질환·운동학회 2013 Gut and Liver Vol.7 No.6
Familial juvenile polyposis (FJP) is a rare autosomal dominant hereditary disorder that is characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of cancer. Recently, germline mutations, including mutations in the SMAD4, BMPR1A, PTEN and, possibly, ENG genes, have been found in patients with juvenile polyps. We herein report a family with juvenile polyposis syndrome (JPS) with a novel germline mutation in the SMAD4 gene. A 21-year-old man presented with rectal bleeding and was found to have multiple polyps in his stomach, small bowel, and colon. His mother had a history of gastrectomy for multiple gastric polyps with anemia and a history of colectomy for colon cancer. A review of the histology of the polyps revealed juvenile polyps in both patients. Subsequently, mutation screening in DNA samples from the patients revealed a germline mutation in the SMAD4 gene. The pair had a novel mutation in exon 10 (stop codon at tyrosine 413). To our knowledge, this mutation has not been previously described. Careful family history collection and genetic screening in JPS patients are needed to identify FJP, and regular surveillance is recommended. (Gut Liver 2013;7:747-751)
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김덕우(Duck-Woo Kim) 대한의학유전학회 2010 대한의학유전학회지 Vol.7 No.1
대장암은 우리나라에서 가장 급격하게 발생이 증가하는 암종의 하나로 유전성 대장암은 전체 대장암의 5-15%를 차지한다. 유전성 대장암은 크게 유전성 비용종증 대장암과 유전성 용종 증후군에서 발생하는 대장암으로 나눌 수 있고, 유전성 용종 증후군에는 가족성 용종증, 포이츠-예거 증후군, 유년기 용종증, MYH 연관 용종증 등이 이에 해당한다. 유전성 대장암은 원인 유전자의 배선돌연변이에 기인하므로 산발성 대장암에 비하여 암이 조기 발생하고, 동시성 및 이시성 암이 흔하며, 대장 이외의 장기에도 종양을 비롯한 질병을 일으키는 특징이 있다. 유전성 대장암은 환자뿐 아니라 가족구성원에 대한 유전자 검사, 유전 상담, 조기 진단을 위한 정기 검진이 매우 중요하며, 이러한 환자 및 가족구성원의 효율적 관리를 위한 유전성종양 등록소의 역할이 중요하다. 본 논문에서는 유전성 대장암에 해당하는 질환들의 임상적/유전적 특성, 치료, 유전자 검사 및 정기검진 프로그램에 대하여 고찰하고자 한다. Colorectal cancer is one of the most steeply increasing malignancies in Korea. Among 398,824 new patients recorded by the Korea Central Cancer Registry between 2003 and 2005, 47,915 cases involved colorectal cancers, accounting for 12.0 % of all malignancies. In 2002, total number of colorectal cancer cases had accounted for 11.2 % of all malignancies. Hereditary syndromes are the source of approximately 5% to 15% of overall colorectal cancer cases. Hereditary colorectal cancers are divided into two types: hereditary nonpolyposis colorectal cancer (HNPCC), and cancers associated with hereditary colorectal polyposis, including familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, juvenile polyposis, and the recently reported hMutYH (MYH)-associated polyposis (MAP). Hereditary colorectal cancers have unique clinical features distinct from sporadic cancer because these are due to germline mutations of the causative genes; (ⅰ) early age-of-onset of cancer, (ⅱ) frequent association with synchronous or metachronous tumors, (ⅲ) frequent association with extracolonic manifestations. The management strategy for patients with hereditary colorectal cancer is quite different from that for sporadic cancer. Furthermore, screening, genetic counseling, and surveillance for at-risk familial member are also important. A well-organized registry can plays a central role in the surveillance and management of families affected by hereditary colorectal cancers. Here, we discuss each type of hereditary colorectal cancer, focusing on the clinical and genetic characteristics, management, genetic screening, and surveillance.
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