{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1390282679420756608.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.3918/jsicm.18.633"}},{"identifier":{"@type":"NAID","@value":"130004696426"}},{"identifier":{"@type":"URI","@value":"https://search.jamas.or.jp/link/ui/2012183909"}}],"dc:title":[{"@language":"en","@value":"Two case reports of hereditary angioedema in the same family"},{"@language":"ja","@value":"同一家系内の遺伝性血管性浮腫の2例"}],"dc:language":"ja","description":[{"type":"abstract","notation":[{"@language":"en","@value":"A 50-year-old woman with facial swelling after dental treatment visited our emergency department. We initially suspected that the swelling was caused by a drug-induced allergy; therefore, the patient was administered anti-allergy therapy. However, the patient did not respond to the therapy. On the basis of examination and a medical interview, we suspected that the swelling was caused by hereditary angioedema (HAE). The condition was eventually diagnosed as type I HAE on the basis of low levels of complement component 4 (C4) and C1-esterase inhibitor (C1-inh) and their functional activities. The patient was treated with a regimen of antifibrinolytics and 17-α-alkylated androgens for both short-term and long-term prevention of recurrence. The patient's medical interview revealed sudden death of a family member. Herein, we report 2 cases of HAE. In addition, we provide several arguments about the necessity of an epidemiologic survey on HAE, free access to HAE information, and establishment of a C1-inh supply system in our country."},{"@language":"ja","@value":"症例は50歳代，女性。歯科治療後の顔面浮腫にて当院救急外来を受診した。当初，薬剤アレルギーを疑いそれに準じた治療を行ったが，治療効果は認めなかった。問診による既往歴，家族歴からhereditary angioedema（HAE）を疑い，compliment component 4（C4）濃度，C1-esterase inhibitor（C1-inh）濃度・活性を測定し，HAE-type I の確定診断を得た。入院中にトラネキサム酸の投与と退院後にダナゾールによる長期予防対策を行い，その後，約1年間の外来フォローを行ったが重篤発作を認めていない。更に，同一家系内での死亡事例の存在が判明したため，【症例2】として調査した。本邦においても，欧米地域で実施されているHAEの疫学調査やHAEに関する診断・治療・予防情報のフリーアクセスシステムの整備，加えて急性発作時にC1-inh補充製剤の緊急投与を可能とする供給体制の早期構築と運用が必要である。"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1410853647338784259","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000265256244"}],"foaf:name":[{"@language":"en","@value":"Maehara Junichi"},{"@language":"ja","@value":"前原 潤一"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Acute Care and General Medicine, Saiseikai Kumamoto Hospital"},{"@language":"ja","@value":"済生会熊本病院救急総合診療センター"}]},{"@id":"https://cir.nii.ac.jp/crid/1410853647338784258","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000265256245"}],"foaf:name":[{"@language":"en","@value":"Mitsui Takahiro"},{"@language":"ja","@value":"三井 貴博"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"済生会熊本病院救急総合診療センター"},{"@language":"en","@value":"Department of Acute Care and General Medicine, Saiseikai Kumamoto Hospital"}]},{"@id":"https://cir.nii.ac.jp/crid/1410853647338784256","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000265256246"}],"foaf:name":[{"@language":"en","@value":"Ogawa Katsuhiro"},{"@language":"ja","@value":"小川 克大"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Acute Care and General Medicine, Saiseikai Kumamoto Hospital"},{"@language":"ja","@value":"済生会熊本病院救急総合診療センター"}]},{"@id":"https://cir.nii.ac.jp/crid/1410853647338784257","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000265256247"}],"foaf:name":[{"@language":"en","@value":"Yonemitsu Koichiro"},{"@language":"ja","@value":"米満 弘一郎"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Acute Care and General Medicine, Saiseikai Kumamoto Hospital"},{"@language":"ja","@value":"済生会熊本病院救急総合診療センター"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"13407988"},{"@type":"EISSN","@value":"1882966X"}],"prism:publicationName":[{"@language":"ja","@value":"日本集中治療医学会雑誌"},{"@language":"en","@value":"Journal of the Japanese Society of Intensive Care Medicine"},{"@language":"en","@value":"Nihon Shuchu Chiryo Igakukai zasshi"},{"@language":"en","@value":"Journal of The Japanese Society of Intensive Care Medicine"},{"@language":"en","@value":"J Jpn Soc Intensive Care Med"},{"@language":"en","@value":"Journal of the Japanese Society of Intensive Care Medicne"},{"@language":"ja","@value":"日集中医誌"},{"@language":"en","@value":"Nihon Shuchu Chiryo Igakukai zasshi J Jpn Soc Intensive Care Med"}],"dc:publisher":[{"@language":"en","@value":"The Japanese Society of Intensive Care Medicine"},{"@language":"ja","@value":"一般社団法人 日本集中治療医学会"}],"prism:publicationDate":"2011","prism:volume":"18","prism:number":"4","prism:startingPage":"633","prism:endingPage":"637"},"reviewed":"false","url":[{"@id":"https://search.jamas.or.jp/link/ui/2012183909"}],"availableAt":"2011","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=hereditary%20angioedema%20(HAE)","dc:title":"hereditary angioedema (HAE)"},{"@id":"https://cir.nii.ac.jp/all?q=C1-esterase%20inhibitor%20(C1-inh)","dc:title":"C1-esterase inhibitor (C1-inh)"},{"@id":"https://cir.nii.ac.jp/all?q=orphan%20disease","dc:title":"orphan disease"}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360011145287224832","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Hereditary Angioedema with Normal C1 Inhibitor: Clinical Symptoms and Course"}]},{"@id":"https://cir.nii.ac.jp/crid/1360011145905442304","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Hereditary Angioedema: New Findings Concerning Symptoms, Affected Organs, and Course"}]},{"@id":"https://cir.nii.ac.jp/crid/1360011146462366208","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A biochemical abnormality in hereditary angioneurotic edema"}]},{"@id":"https://cir.nii.ac.jp/crid/1360292621092982912","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Plasma bradykinin in angio-oedema"}]},{"@id":"https://cir.nii.ac.jp/crid/1360574095566797824","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Hereditary angioedema with normal C1-inhibitor activity in women"}]},{"@id":"https://cir.nii.ac.jp/crid/1360574095900073856","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Hereditary Angioedema"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418518651921792","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418518653351936","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Hereditary angioneurotic oedema: characterization of plasma kinin and vascular permeability-enhancing 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