{"title":"遗传性血管性水肿的儿科患者表现为腹痛和十二指肠扩张。","authors":"Mawada Abbaker, Yaseen Rafe'e, Irma Zamir, Gurbaksh Esch","doi":"10.1136/bcr-2024-263989","DOIUrl":null,"url":null,"abstract":"<p><p>SummaryHereditary angioedema (HAE) is a genetic disorder that causes sudden episodes of swelling, often accompanied by abdominal pain. Affecting roughly 1 in 50 000 people, HAE typically appears in childhood. The condition stems from a deficiency or dysfunction of C1-esterase inhibitor (C1-INH), which triggers uncontrolled inflammation. Diagnosis depends on factors level and function. Treatment focuses on managing acute attacks and preventing future episodes using medications such as C1-INH replacement among other options. In this case, a middle childhood boy experienced severe abdominal pain and vomiting. A detailed family history revealed a pattern of HAE among relatives. Lab results confirmed Type 1 HAE. Acute treatment with Berinert was successful, and the patient was later placed on long-term prophylaxis with lanadelumab, which is a monoclonal antibody that inhibits Kallikrein. This case illustrates the importance of considering HAE in children with unexplained abdominal symptoms, particularly in the context of a family history of the condition. Early identification and treatment are essential to managing this life-threatening disorder.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 7","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hereditary angioedema in a paediatric patient presenting with abdominal pain and duodenal dilation.\",\"authors\":\"Mawada Abbaker, Yaseen Rafe'e, Irma Zamir, Gurbaksh Esch\",\"doi\":\"10.1136/bcr-2024-263989\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>SummaryHereditary angioedema (HAE) is a genetic disorder that causes sudden episodes of swelling, often accompanied by abdominal pain. Affecting roughly 1 in 50 000 people, HAE typically appears in childhood. The condition stems from a deficiency or dysfunction of C1-esterase inhibitor (C1-INH), which triggers uncontrolled inflammation. Diagnosis depends on factors level and function. Treatment focuses on managing acute attacks and preventing future episodes using medications such as C1-INH replacement among other options. In this case, a middle childhood boy experienced severe abdominal pain and vomiting. A detailed family history revealed a pattern of HAE among relatives. Lab results confirmed Type 1 HAE. Acute treatment with Berinert was successful, and the patient was later placed on long-term prophylaxis with lanadelumab, which is a monoclonal antibody that inhibits Kallikrein. This case illustrates the importance of considering HAE in children with unexplained abdominal symptoms, particularly in the context of a family history of the condition. Early identification and treatment are essential to managing this life-threatening disorder.</p>\",\"PeriodicalId\":9080,\"journal\":{\"name\":\"BMJ Case Reports\",\"volume\":\"18 7\",\"pages\":\"\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-07-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMJ Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/bcr-2024-263989\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMJ Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/bcr-2024-263989","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Hereditary angioedema in a paediatric patient presenting with abdominal pain and duodenal dilation.
SummaryHereditary angioedema (HAE) is a genetic disorder that causes sudden episodes of swelling, often accompanied by abdominal pain. Affecting roughly 1 in 50 000 people, HAE typically appears in childhood. The condition stems from a deficiency or dysfunction of C1-esterase inhibitor (C1-INH), which triggers uncontrolled inflammation. Diagnosis depends on factors level and function. Treatment focuses on managing acute attacks and preventing future episodes using medications such as C1-INH replacement among other options. In this case, a middle childhood boy experienced severe abdominal pain and vomiting. A detailed family history revealed a pattern of HAE among relatives. Lab results confirmed Type 1 HAE. Acute treatment with Berinert was successful, and the patient was later placed on long-term prophylaxis with lanadelumab, which is a monoclonal antibody that inhibits Kallikrein. This case illustrates the importance of considering HAE in children with unexplained abdominal symptoms, particularly in the context of a family history of the condition. Early identification and treatment are essential to managing this life-threatening disorder.
期刊介绍:
BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.