Čes-slov Pediat 2022, 77(1):19-26 | DOI: 10.55095/CSPediatrie2022/003
Hereditary angioedema in children: what the paediatrician needs to knowOriginal Papers
- Detská klinika Lekárskej fakulty Univerzity Komenského a Národného ústavu detských chorôb v Bratislave
Hereditary angioedema (HAE) is a rare genetic disorder
characterized by recurrent episodes of localized, bradykinin-mediated swelling of the deep tissues of the skin, respiratory and gastrointestinal tract, which can be life-threatening. In most cases, HAE is caused by C1-esterase inhibitor (C1-inhibitor) deficiency, most commonly due to a mutation in the SERPING1 gene. Symptoms usually begin in childhood or adolescence and worsen towards
adulthood. Diagnosis is complicated by the considerable variability of clinical symptoms and/or the presence of concomitant, mainly allergic diseases. In this article, we describe a series of 6 patients from 3 families with genetically confirmed HAE and their clinical phenotype.
Keywords: hereditary angioedema, C1-inhibitor, bradykinin, diagnostics, case reports
Published: January 21, 2022 Show citation
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