小儿女性遗传性血管性水肿反复发作。

IF 1.4 4区 医学 Q3 PEDIATRICS Paediatrics and International Child Health Pub Date : 2024-05-01 Epub Date: 2024-02-25 DOI:10.1080/20469047.2024.2317488
Maha Khalil Abass, Abdelaly Dabosy, Khulood Walid Khawaja, Philip R Fischer
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引用次数: 0

摘要

一名 16 岁的女性因腹痛、呕吐和轻微皮肤肿胀反复发作(自发或在轻微外伤后)到门诊就诊,病史长达 13 年。每隔 1-2 个月发作一次。家族中没有类似病史或遗传性血管性水肿(HAE)病史。16岁时,经过评估,确诊为HAE II型,其特征是C4水平低和C1酯酶抑制剂功能减退。医生给患者开了氨甲环酸 1 克,每天两次,并在症状发作时使用 C1 酯酶抑制剂作为抢救药物。本病例报告强调,对于反复发作、原因不明的腹痛患者,即使没有阳性的 HAE 家族史,也必须考虑 HAE 诊断:缩写:ANA 抗核抗体;C1-INH C1-抑制剂;CBC 全血细胞计数;FMF 家族性地中海热;HAE 遗传性血管性水肿;IBD 炎症性肠病;SDP 溶剂去污剂处理血浆;SLE 红斑狼疮。
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Repeated attacks of hereditary angioedema in pediatric female.

A 16-year-old female presented to an outpatient clinic with a 13-year history of recurrent episodes of abdominal pain, vomiting and mild cutaneous swelling, either spontaneously or following minor trauma. The episodes occurred every 1-2 months. There was no family history of a similar complaint or hereditary angio-oedema (HAE). At the age of 16, evaluation confirmed the diagnosis of HAE type II, characterised by low C4 levels and reduced C1 esterase inhibitor function. The patient was prescribed tranexamic acid 1 g twice daily as well as C1 esterase inhibitor used as rescue medication during symptomatic episodes. This case report emphasises the importance of considering a diagnosis of HAE in patients with recurrent, unexplained abdominal pain, even in the absence of a positive family history of HAE.Abbreviations: ANA Antinuclear antibodies; C1-INH C1-inhibitor; CBC Complete blood count; FMF Familial Mediterranean fever; HAE Hereditary angioedema; IBD Inflammatory bowel diseases; SDP Solvent detergent-treated plasma; SLE Lupus erythematosus.

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来源期刊
CiteScore
3.30
自引率
0.00%
发文量
19
审稿时长
6-12 weeks
期刊介绍: Paediatrics and International Child Health is an international forum for all aspects of paediatrics and child health in developing and low-income countries. The international, peer-reviewed papers cover a wide range of diseases in childhood and examine the social and cultural settings in which they occur. Although the main aim is to enable authors in developing and low-income countries to publish internationally, it also accepts relevant papers from industrialised countries. The journal is a key publication for all with an interest in paediatric health in low-resource settings.
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