Hereditary angioedema due to C1-inhibitor deficiency in pediatric patients in Croatia : first national study, diagnostic and prophylactic challenges
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.
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.
2019
2020-12-16 17:23:17
1033
hereditary angioedemas -- genetics -- Croatia, inborn genetic diseases -- Croatia, pediatrics -- Croatia, C1 inhibitor, SERPING1 gene, children
hereditarni angioedemi -- genetika -- Hrvaška, prirojene genetske bolezni -- Hrvaška, pediatrija -- Hrvaška, inhibitor C1, gen SERPING1, otroci
Sestre milosrdnice University Hospital
Ljerka
Karadža-Lapić
70
Marko
Barešić
70
Renata
Vrsalović
70
Irena
Ivković-Jureković
70
Saša
Sršen
70
Ingrid
Prkačin
70
Matija
Rijavec
70
Draško
Cikojević
70
UDK
4
616.1
ISSN pri članku
9
1333-9451
DOI
15
10.20471/acc.2019.58.01.18
COBISS_ID
3
2048524657
OceCobissID
13
6272831
RAZ_Karadza-Lapic_Ljerka_i2019.pdf
489281
Predstavitvena datoteka
2021-05-10 12:09:15
0
Izvorni URL
2020-12-16 17:36:00