| Title: | Hereditary angioedema due to C1-inhibitor deficiency in pediatric patients in Croatia : first national study, diagnostic and prophylactic challenges |
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| Authors: | ID Karadža-Lapić, Ljerka (Author)
ID Barešić, Marko (Author)
ID Vrsalović, Renata (Author)
ID Ivković-Jureković, Irena (Author)
ID Sršen, Saša (Author)
ID Prkačin, Ingrid (Author)
ID Rijavec, Matija, Klinika Golnik (Author)
ID Cikojević, Draško (Author) |
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| Files: |  PDF - Presentation file, download (477,81 KB)
MD5: 7A73ED3CBFA8598FC8A32A989566AFC9
 URL - Source URL, visit https://hrcak.srce.hr/file/322489
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| Language: | English |
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| Typology: | 1.02 - Review Article |
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| Organization: |  UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik
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| Abstract: | 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. |
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| Keywords: | hereditary angioedemas -- genetics -- Croatia, inborn genetic diseases -- Croatia, pediatrics -- Croatia, C1 inhibitor, SERPING1 gene, children |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Place of publishing: | Hrvaška |
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| Publisher: | Sestre milosrdnice University Hospital |
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| Year of publishing: | 2019 |
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| Number of pages: | str. 139-146 |
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| Numbering: | Vol. 58, no. 1 |
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| PID: | 20.500.12556/DiRROS-12913  |
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| UDC: | 616.1 |
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| ISSN on article: | 1333-9451 |
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| DOI: | 10.20471/acc.2019.58.01.18 |
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| COBISS.SI-ID: | 2048524657 |
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| Note: | Soavtor iz Slovenije: Matija Rijavec;
Nasl. z nasl. zaslona;
Opis vira z dne 2. 8. 2019;
Prispevek v angl., dodatna vsebina v hrv.;
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| Publication date in DiRROS: | 16.12.2020 |
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| Views: | 1661 |
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| Downloads: | 1166 |
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