p ů V o d n í p r á c e Hereditárny angioedém u detí: čo potrebuje vedieť pediater Hereditary angioedema in children: what the paediatrician needs to know ivana hulínková, peter čižnár detská klinika lekárskej fakulty univerzity komenského a národného ústavu detských chorôb v Bratislave súhrn hulínková i, čižnár p. hereditárny angioedém u detí: čo potrebuje vedieť pediater Hereditárny angioedém (Hae) je zriedkavé geneticky podmienené ochorenie charakterizované rekurentnými epizódami lokalizovaného, bradykinínom sprostredkovaného opuchu hlbokých tkanív kože, dýchacieho a gastrointestinálneho traktu, ktorý môže ohroziť pacientov život. Vo väčšine prípadov je Hae spôsobený nedostatkom inhibítora c1-esterázy (c1-inhibítora), najčastejšie vplyvom mutácie v géne serpinG1. symptómy sa obvykle začínajú v detstve alebo adolescencii a smerom k dospelosti sa zhoršujú. diagnostiku komplikuje značná variabilita klinických príznakov a/alebo prítomnosť sprievodných najmä alergických ochorení. V článku uvádzame súbor 6 pacientov z 3 rodín s geneticky potvrdeným Hae a ich klinický fenotyp. kľúčové slová: hereditárny angioedém, c1-inhibítor, bradykinín, diagnostika, kazuistiky summary hulínková i, čižnár p. hereditary angioedema in children: what the paediatrician needs to knowHereditary angioedema (Hae) is a rare genetic disorder characterized by recurrent episodes of localized, bradykinin-mediated swelling of the deep tissues of the skin, respiratory and gastrointestinal tract, which can be life-threatening. in most cases, Hae is caused by c1-esterase inhibitor (c1-inhibitor) deficiency, most commonly due to a mutation in the serpinG1 gene. symptoms usually begin in childhood or adolescence and worsen towards adulthood. diagnosis is complicated by the considerable variability of clinical symptoms and/or the presence of concomitant, mainly allergic diseases. in this article, we describe a series of 6 patients from 3 families with genetically confirmed Hae and their clinical phenotype.
Aim. Circular DNA segments TREC (T-cell receptor excision circles) formed during T-lymphocyte maturation in the thymus, are a sensitive marker of thymic lymphocyte production in a broader manner. Quantification using qPCR is proposed as a surrogate marker of T cell malfunction in various primary and secondary conditions in a non-SCID selected risk newborn population. Methods. We collected 207 dry blood spot samples during the years 2015-2018, from newly admitted risk newborns. TREC values calculated per 10 6 cells were determined and a cut-off values of 5th percentile was set. The positive control group consisted of patients (n=13) with genetically confirmed SCID.
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