@Article{Krogulska2021,
journal="Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii",
issn="1642-395X",
volume="38",
number="6",
year="2021",
title="Hereditary angioedema as a disease of different clinical courses and difficult diagnosis, particularly in children – a case report and a literature review",
abstract="Hereditary angioedema (HAE) is a rare genetic disease with potentially fatal consequences [1]. Its estimated occurrence ranges from 1 : 10,000 to 1 : 50,000 [2]. A few types of HAE have been differentiated. HAE types 1 and 2 are most common, with depleted C1 inhibitor esterase (C1-INH) in serum or its dysfunction caused by a mutated SERPING1 gene [3]. The illness is mainly inherited through autosomal dominance, with 20–25% of cases caused by de novo mutation [4]. C1-INH, a member of the serpin group proteins, is a natural inhibitor of the initial phase of the complement cascade. Disrupting its concentration or function causes uncontrolled bradykinin production and accumulation, due to non-physiological activation of the complement system, the coagulation pathway, fibrinolysis and kallikrein cascade. When bound to its specific type 2 receptors, bradykinin induces a rapid increase in subcutaneous and submucosal blood vessel permeability, manifested as recurrent episodes of subcutaneous and submucosal tissue oedema.",
author="Krogulska, Aneta
and Lewandowska, Dorota
and Ludwig, Hanna
and Dąbrowska, Anna
and Kowalczyk, Agnieszka",
pages="1118--1121",
doi="10.5114/ada.2021.106249",
url="http://dx.doi.org/10.5114/ada.2021.106249"
}