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.Vir: Acta clinica Croatica [Elektronski vir]. - ISSN 1333-9451 (Vol. 58, no. 1, 2019, str. 139-146)Vrsta gradiva - e-članek ; neleposlovje za odrasleLeto - 2019Jezik - angleški, hrvaškiCOBISS.SI-ID - 2048524657
Angioedemas, hereditary | Genetics | Croatia | Genetic diseases, inborn | Pediatrics | Hereditarni angioedemi | Genetika | Hrvaška | Prirojene genetske bolezni | Pediatrija | C1 inhibitor | SERPING1 gene | children | inhibitor C1 | gen SERPING1 | otroci
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