Acta clinica Croatica, Vol. 58. No. 1., 2019.
Pregledni rad
https://doi.org/10.20471/acc.2019.58.01.18
Hereditary Angioedema due to C1-Inhibitor Deficiency in Pediatric Patients in Croatia – First National Study, Diagnostic and Prophylactic Challenges
Ljerka Karadža-Lapić
; Department of Otorhinolaryngology, Šibenik General Hospital, Šibenik, Croatia
Marko Barešić
; Division of Clinical Immunology and Rheumatology, Department of Internal Medicine, School of Medicine, University of Zagreb, Zagreb University Hospital Centre, Zagreb, Croatia
Renata Vrsalović
; Department of Pediatrics, Sestre milosrdnice University Hospital Centre, Zagreb, Croatia
Irena Ivković-Jureković
; Zagreb Children’s Hospital, Zagreb, Croatia; Pediatric Department, Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
Saša Sršen
; Department of Pediatrics, Split University Hospital Centre, Split, Croatia
Ingrid Prkačin
; Department of Internal Medicine, School of Medicine, University of Zagreb, Merkur University Hospital, Zagreb, Croatia
Matija Rijavec
; Golnik University Clinic of Pulmonary and Allergic Diseases, Golnik, Slovenia
Draško Cikojević
; Department of Otorhinolaryngology, Split University Hospital Centre, Split, Croatia
Sažetak
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.
Ključne riječi
Hereditary angioedema types I and II – diagnosis; Complement C1 inhibitor protein; Child; Croatia
Hrčak ID:
220904
URI
Datum izdavanja:
1.3.2019.
Posjeta: 2.440 *