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Hereditary angioedema due to C1-inhibitor deficiency in pediatric patients in Croatia [Elektronski vir] : first national study, diagnostic and prophylactic challengesKaradža-Lapić, Ljerka ...Hereditary angioedema (HAE) is a rare autosomal dominant disease with deficiency (type I) or dysfunction (type II) of C1 inhibitor, caused by mutations in the C1-INH gene, characterized by recurrent ... submucosal or subcutaneous edemas including skin swelling, abdominal pain and life-threatening episodes of upper airway obstruction. The aim of this study was to investigate healthcare experiences in children with HAE due to C1 inhibitor deficiency (C1-INH-HAE) in Croatia in order to estimate the number of affected children and to recommend management protocols for diagnosis, short-term prophylaxis and acute treatment. Patients were recruited during a 4-year period at five hospitals in Croatia. Complement testing was performed in patients with a positive family history. This pilot study revealed nine pediatric patients positive for C1-INH- HAE type I, aged 1-16 years, four of them asymptomatic. Before the age of one year, C1-INH levels may be lower than in adults; it is advisable to confirm C1-INH-HAE after the age of one year. Plasma-derived C1- INH is recommended as acute and short-term prophylactic treatment. Recombinant C1-INH and icatibant are licensed for the acute treatment of pediatric patients. In Croatia, HAE is still underdiagnosed in pediatric population.Source: Acta clinica Croatica [Elektronski vir]. - ISSN 1333-9451 (Vol. 58, no. 1, 2019, str. 139-146)Type of material - e-article ; adult, seriousPublish date - 2019Language - english, croatianCOBISS.SI-ID - 2048524657
Author
Karadža-Lapić, Ljerka |
Barešić, Marko |
Vrsalović, Renata |
Ivković-Jureković, Irena |
Sršen, Saša, pediater |
Prkačin, Ingrid |
Rijavec, Matija |
Cikojević, Draško
Topics
Angioedemas, hereditary |
Genetics |
Croatia |
Genetic diseases, inborn |
Croatia |
Pediatrics |
Croatia |
Hereditarni angioedemi |
Genetika |
Hrvaška |
Prirojene genetske bolezni |
Hrvaška |
Pediatrija |
Hrvaška |
C1 inhibitor |
SERPING1 gene |
children |
inhibitor C1 |
gen SERPING1 |
otroci
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Karadža-Lapić, Ljerka | |
Barešić, Marko | |
Vrsalović, Renata | |
Ivković-Jureković, Irena | |
Sršen, Saša, pediater | |
Prkačin, Ingrid | |
Rijavec, Matija | 29300 |
Cikojević, Draško |
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