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10 záznamů v Články Filtry

Článek

Deficiencia adenozín-deaminázy 2. typu (DADA2): klinický obraz, diagnostika a liečba
[Deficiency of adenosine deaminase type 2 (DADA2): clinical picture, diagnosis and treatment]

Balažiová, Barbora, 1987-
Autor Autorita Detská klinika Lekárskej fakulty Univerzity Komenského (LF UK) a Národného ústavu detských chorôb (NÚDCH), Bratislava
Hrčková, Gabriela
Autor Autorita ORCID Detská klinika Lekárskej fakulty Univerzity Komenského (LF UK) a Národného ústavu detských chorôb (NÚDCH), Bratislava
Urdová Dobšinská, Veronika
Autor Autorita Transplantačná jednotka kostnej drene Kliniky detskej hematológie a onkológie LF UK a NÚDCH, Bratislava
Dallos, Tomáš
Autor Autorita Detská klinika Lekárskej fakulty Univerzity Komenského (LF UK) a Národného ústavu detských chorôb (NÚDCH), Bratislava

Vnitřní lékařství. 2024 ; 70 (4) : 233-240. [pub] 20240620

ISSN 0042-773X
Medvik
Zdroj

Deficiencia adenozín-deaminázy 2. typu (DADA2) je geneticky podmienené multisystémové autoinflamačné ochorenie, ktoré bolo prvýkrát opísané v roku 2014. Vzniká v dôsledku patogénnych variantov génu ADA2, ktoré vedú k redukcii až k úplnej strate aktivity enzýmu ADA2. Manifestuje sa vysoko variabilným fenotypom, s prejavmi systémovej alebo cerebrálnej vaskulitídy, imunodeficienciou a/alebo zlyhaním kostnej drene, obvykle s včasným nástupom v živote pacienta. Doteraz bolo publikovaných viac ako 370 prípadov DADA2, pričom štatistické výpočty odhadujú celosvetový výskyt na viac ako 35 000 jedincov. Rozmanitosť fenotypového spektra oneskoruje diagnostiku a efektívnu liečbu pacientov nezriedka až do dospelého veku. Prehľadom o klinickom obraze, diagnostike a terapii DADA2 chceme prispieť k zlepšeniu povedomia odbornej verejnosti o tejto raritnej chorobe a skráteniu cesty pacientov k efektívnej liečbe, ktorá je účinná a kľúčová v prevencii niektorých trvalých následkov neliečeného ochorenia.

Deficiency of adenosine deaminase type 2 (DADA2) is a genetically determined multisystem autoinflammatory disease first described in 2014. It results from pathogenic variants in the ADA2 gene that lead to the reduction or complete loss of ADA2 enzyme activity. It presents with a highly variable phenotype as systemic or cerebral vasculitis, immunodeficiency and/or bone marrow failure, usually with early onset. More than 370 published cases of DADA2 can be found in international literature, however, statistical calculations estimate the prevalence to more than 35,000 individuals worldwide. The diversity of the phenotypic spectrum delays diagnosis and effective treatment of patients not infrequently until adulthood. By reviewing the clinical picture, diagnosis and therapy of DADA2, we aim to improve the awareness of this disease among professionals and thus shorten the patients' pathway to effective treatment, which is efficient and crucial in preventing some of the permanent sequelae of untreated disease.

Článek

NTPDase, 5′-nucleotidase and adenosine deaminase activities and purine levels in serum of sickle cell anemia patients

Journal of Applied Biomedicine. 2018 ; 16 (3) : 208-213.

ISSN 1214-021X
Medvik
Zdroj

Sickle cell anemia (SCA) is a hereditary disorder that is characterized by tendency of hemoglobin molecules within the erythrocytes to polymerize under hypoxia conditions, deform the red cells, and promote vaso-occlusion and endothelial damage. This disease may be associated with the extracellular release of nucleotides, particularly ATP, ADP and adenosine into the circulation. The aim of this study was to investigate the possible changes in adenine nucleotides and nucleoside metabolizing enzymes as well as their levels in serum of SCA patients. NTPDase, 5′-nucleotidase and adenosine deaminase activities were evaluated in serum obtained from blood samples of 15 SCA treated patients and 15 healthy subjects (control group). The results revealed that there were significant (P < 0.001) elevations in NTPDase, 5′-nucleotidase and ADA activities in serum of SCA treated patients when compared to the control group. Furthermore, no significant (P > 0.05) alteration was observed in ATP, ADP and adenosine levels of both SCA treated and control groups. However, inosine level was significantly (P < 0.05) decreased and hypoxanthine level was higher in SCA treated patients (P < 0.001) when compared to the control group. The results suggest the involvement of purinergic signaling enzymes in the maintenance of the levels of extracellular nucleotides and nucleosides, thus preventing some pathophysiological conditions associated with SCA.