Hereditary angioedema in children: what the paediatrician needs to know
Authors:
Hulínková Ivana; Čižnár Peter
Authors place of work:
Detská klinika Lekárskej fakulty Univerzity Komenského a Národného ústavu detských chorôb v Bratislave
Published in the journal:
Čes-slov Pediat 2022; 77 (1): 19-26.
Category:
Original Papers
Summary
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 – diagnostics – C1-inhibitor – bradykinin – case reports
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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