| Naslov: | Hereditary angioedema due to C1-inhibitor deficiency in pediatric patients in Croatia : first national study, diagnostic and prophylactic challenges |
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| Avtorji: | ID Karadža-Lapić, Ljerka (Avtor)
ID Barešić, Marko (Avtor)
ID Vrsalović, Renata (Avtor)
ID Ivković-Jureković, Irena (Avtor)
ID Sršen, Saša (Avtor)
ID Prkačin, Ingrid (Avtor)
ID Rijavec, Matija, Klinika Golnik (Avtor)
ID Cikojević, Draško (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (477,81 KB)
MD5: 7A73ED3CBFA8598FC8A32A989566AFC9
 URL - Izvorni URL, za dostop obiščite https://hrcak.srce.hr/file/322489
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.02 - Pregledni znanstveni članek |
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| Organizacija: |  UKPBAG - Univerzitetna klinika za pljučne bolezni in alergijo Golnik
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| Povzetek: | 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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| Ključne besede: | hereditary angioedemas -- genetics -- Croatia, inborn genetic diseases -- Croatia, pediatrics -- Croatia, C1 inhibitor, SERPING1 gene, children |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Kraj izida: | Hrvaška |
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| Založnik: | Sestre milosrdnice University Hospital |
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| Leto izida: | 2019 |
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| Št. strani: | str. 139-146 |
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| Številčenje: | Vol. 58, no. 1 |
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| PID: | 20.500.12556/DiRROS-12913  |
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| UDK: | 616.1 |
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| ISSN pri članku: | 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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| Opomba: | 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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| Datum objave v DiRROS: | 16.12.2020 |
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| Število ogledov: | 1233 |
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| Število prenosov: | 968 |
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| Metapodatki: |     |
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