| Title: | Hereditary angioedema due to C1-inhibitor deficiency in pediatric patients in Croatia : first national study, diagnostic and prophylactic challenges |
|---|
| Authors: | Karadža-Lapić, Ljerka (Author)
Barešić, Marko (Author)
Vrsalović, Renata (Author)
Ivković-Jureković, Irena (Author)
Sršen, Saša (Author)
Prkačin, Ingrid (Author)
Rijavec, Matija (Author)
Cikojević, Draško (Author) |
|---|
| Language: | English |
|---|
| Tipology: | 1.02 - Review Article |
|---|
| Organisation: |  UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik |
|---|
| 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. |
|---|
| Keywords: | hereditary angioedemas -- genetics -- Croatia, inborn genetic diseases -- Croatia, pediatrics -- Croatia, C1 inhibitor, SERPING1 gene, children |
|---|
| Year of publishing: | 2019 |
|---|
| Publisher: | Sestre milosrdnice University Hospital |
|---|
| Source: | Hrvaška |
|---|
| COBISS_ID: | 2048524657  |
|---|
| UDC: | 616.1 |
|---|
| ISSN on article: | 1333-9451 |
|---|
| OceCobissID: | 6272831 |
|---|
| DOI: | 10.20471/acc.2019.58.01.18 |
|---|
| Note: | Soavtor iz Slovenije: Matija Rijavec;
Nasl. z nasl. zaslona;
Opis vira z dne 2. 8. 2019;
Prispevek v angl., dodatna vsebina v hrv.;
|
|---|
| Views: | 736 |
|---|
| Downloads: | 518 |
|---|
| Files: |  PDF - Presentation file, download (477,81 KB)
 URL - Source URL, visit https://hrcak.srce.hr/file/322489
|
|---|
| | | Journal: | Acta clin. Croat.
Sestre milosrdnice University Hospital
|
|---|
| | | Metadata: |     |
|---|
|
:
|
|
|---|
| | |
Hover the mouse pointer over a document title to show the abstract or click
on the title to get all document metadata. |