| 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: | Karadža-Lapić, Ljerka (Avtor)
Barešić, Marko (Avtor)
Vrsalović, Renata (Avtor)
Ivković-Jureković, Irena (Avtor)
Sršen, Saša (Avtor)
Prkačin, Ingrid (Avtor)
Rijavec, Matija (Avtor)
Cikojević, Draško (Avtor) |
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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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| Leto izida: | 2019 |
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| Založnik: | Sestre milosrdnice University Hospital |
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| Izvor: | Hrvaška |
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| UDK: | 616.1 |
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| ISSN pri članku: | 1333-9451 |
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| OceCobissID: | 6272831  |
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| COBISS_ID: | 2048524657 |
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| DOI: | 10.20471/acc.2019.58.01.18 |
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| Opombe: | 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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| Število ogledov: | 140 |
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| Število prenosov: | 143 |
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| Datoteke: |  URL - Predstavitvena datoteka, za dostop obiščite https://hrcak.srce.hr/file/322489
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| | | Nadgradivo: | Acta clin. Croat.
Sestre milosrdnice University Hospital
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| | | Metapodatki: |     |
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