Digital repository of Slovenian research organisations

Show document
A+ | A- | SLO | ENG

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:Logo 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 Link is opened in a new window
UDC:616.1
ISSN on article:1333-9451
OceCobissID:6272831 Link is opened in a new window
DOI:10.20471/acc.2019.58.01.18 Link is opened in a new window
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 PDF - Presentation file, download (477,81 KB)
URL URL - Source URL, visit https://hrcak.srce.hr/file/322489
 
Journal:Acta clin. Croat.
Sestre milosrdnice University Hospital
 
Metadata:XML RDF-CHPDL DC-XML DC-RDF
:
  
Hover the mouse pointer over a document title to show the abstract or click on the title to get all document metadata.


Licences

License:CC BY-NC-ND 4.0, Creative Commons Attribution Non-Commercial No Derivatives 4.0 International
Link:http://creativecommons.org/licenses/by-nc-nd/4.0/
Description:The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.
Licensing start date:10.10.2018

Secondary language

Language:Croatian
Title:Hereditarni angioedem uzrokovan manjkom C1-inhibitora u pediatrijskih bolesnika u Hrvatskoj - prvo nacionalno istraživanje, dijagnostički i profilaktički izazovi
Abstract:Hereditarni angioedem (HAE) je rijetka autosomno dominantna bolest nastala zbog mutacije gena SERPING1 za inhibitor plazmatskog proteina C1 (C1-INH). Uslijed manjka C1 inhibitora (tip I) ili njegove disfunkcionalnosti (tip II) dolazi do okidačem potaknute autoaktivacije C1-komponente komplementa i cijele kaskade koja dovodi do submukoznih ili subkutanih iznenadnih pojava oteklina kože, lica, kapaka, usana ili grla te abdominalnih bolova praćenih povraćanjem i dehidracijom. U najtežim slučajevima uslijed edema glotisa može doći do gušenja. Cilj ovoga istraživanja bila je procjena ukupnog broja djece s HAE zbog nedostatka C1 inhibitora (C1-INH-HAE) u Hrvatskoj kako bi se preporučili i provodili ujednačeni protokoli za dijagnozu, kratkotrajnu profilaksu i akutno liječenje. Pedijatrijski bolesnici su uključivani u istraživanje tijekom 4 godine u pet bolnica u Hrvatskoj. Svima s pozitivnom obiteljskom anamnezom na HAE analizirana je razina komplementa i C1 inhibitora. Probno istraživanje je otkrilo devet bolesnika pedijatrijske populacije u dobi od 1-16 godina koji su pozitivni za CI-INH-HAE tip I, od kojih su 4 bili asimptomatski. U slučaju akutnog napadaja HAE kao i za profilaktičnu primjenu preporuča se primjena pdC1-INH (humani inhibitor C1 esteraze). Također, rekombinantni C1-INH i ikatibant indicirani su za akutno liječenje pedijatrijskih bolesnika. U Hrvatskoj HAE je još uvijek nedovoljno dijagnosticiran u pedijatrijskoj populaciji.
Keywords:hereditarni angioedemi -- genetika -- Hrvaška, prirojene genetske bolezni -- Hrvaška, pediatrija -- Hrvaška, inhibitor C1, gen SERPING1, otroci


Back