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2018 | 23 | 4 | 193-198
Article title

Wrodzony obrzęk naczynioruchowy u dzieci

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Title variants
EN
Hereditary angioedema in children
Languages of publication
PL EN
Abstracts
EN
Hereditary angioedema (HAE) is a rare disease characterized by episodes of subcutaneous or submucosal oedema, without urticaria and itching, spontaneously resolving within 1-5 days, resistant to antihistamines and glucocorticosteroids. The average age of development of symptoms is 10 years, and 40% of affected individuals experience their first attack under the age of 5. HAE is most commonly associated with inherited decrease of the concentration of C1 inhibitor (C1 INH) or dysfunction of C1 INH. This activates the complement and causes bradykinin accumulation leading to tissue edema. Diagnosis of HAE includes an interview, the morphological characteristics of swelling and the results of additional tests (concentration and activity of C1 INH, concentration of complement component 4). The final diagnosis requires at least two consistent results of screening tests, the second one should be carried out after the first year of age. Genetic tests can be performed in families with a known mutation. Research on HAE reveal frequent delays in the diagnosis, which have a negative impact on quality of life. At present, 2 preparations used in treatment of HAE in pediatric population are refunded in Poland: concentrate of C1 INH: Berinert (no age restrictions) and recombinant concentrate of C1 INH: Ruconest (from 13 years of age).
PL
Wrodzony obrzęk naczynioruchowy (Hereditary angioedema, HAE) u dzieci jest rzadką chorobą charakteryzującą się epizodami obrzęku tkanki podskórnej lub podśluzowej bez bąbla pokrzywkowego i świą- du, ustępującymi spontanicznie w ciągu 1-5 dni, opornymi na działanie leków przeciwhistaminowych i glikokortykosteroidów. Średni wiek rozwoju objawów to 10 lat, a 40% dotkniętych chorobą osób przeżywa swój pierwszy atak w wieku poniżej 5 lat. HAE jest najczęściej zwią- zany z dziedzicznym zmniejszeniem stężenia lub dysfunkcją inhibitora C1 (C1-INH). Powoduje to aktywację układu dopełniacza i akumulację bradykininy prowadzącą do obrzęku tkanek. W diagnostyce HAE istotny jest wywiad, morfologiczne cechy obrzęku i wyniki badań dodatkowych (stężenie i aktywność C1-INH, stężenie składowej C4 dopełniacza). Ostateczna diagnoza wymaga co najmniej dwóch zgodnych wyników badań przesiewowych, przy czym drugie z nich powinno zostać przeprowadzone po 1. r.ż. W rodzinach ze znaną mutacją można wykonać badania genetyczne. Badania pokazują częste opóźnienia w diagnozie, które mają negatywny wpływ na jakość życia pacjentów. Obecnie w Polsce refundowane są dwa preparaty do stosowania w leczeniu HAE w populacji pediatrycznej - koncentrat C1 inhibitora: Berinert (bez ograniczeń wiekowych) i rekombinowany koncentrat C1 inhibitora: Ruconest (od 13. r.ż.).
Discipline
Publisher

Year
Volume
23
Issue
4
Pages
193-198
Physical description
Contributors
References
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article
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YADDA identifier
bwmeta1.element.psjd-22063442-28d0-4333-978a-2c423e619395
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