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Vol. 74 Br. 5 (2017)
Vol. 74 Br. 5 (2017)

Hemofagocitni sindrom izazvan intenzivnom fizičkom aktivnošću i virusnom infekcijom kod mlade odrasle ženske osobe sa tri heterozigotne mutacije u Munc-18-2

DOI: 10.2298/VSP150701224M
Olivera Marković
Clinical Hospital Center Bežanijska kosa, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Dragana Janić
Faculty of Medicine, University of Belgrade, Belgrade, Serbia; University Children’s Hospital, Belgrade, Serbia
Milorad Pavlović
Faculty of Medicine, University of Belgrade, Belgrade, Serbia; Clinic of Infectious Diseases, Belgrade, Serbia.
Ljiljana Tukić
Clinic of Haematology, Military Medical Academy, Belgrade, Serbia; Faculty of Medicine of the Military Medical Academy, University of Defence, Belgrade, Serbia
Srdja Janković
Clinical Hospital Center Bežanijska kosa, Belgrade, Serbia; University Children’s Hospital, Belgrade, Serbia.
Branka Filipović
Clinical Hospital Center Bežanijska kosa, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Dragomir Marisavjević
Clinical Hospital Center Bežanijska kosa, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.

Dopunski fajlovi

Untitled (engleski)

Objavljeno

2017-07-03

Sekcija

Prikaz bolesnika

Kako citirati

1.
Marković O, Janić D, Pavlović M, Tukić L, Janković S, Filipović B, i drugi. Hemofagocitni sindrom izazvan intenzivnom fizičkom aktivnošću i virusnom infekcijom kod mlade odrasle ženske osobe sa tri heterozigotne mutacije u Munc-18-2. Vojnosanit Pregl [Internet]. 03. Juli 2017. [citirano 12. Juli 2026.];74(5):494-7. Dostupno na: https://asistent.ceon.rs/index.php/vsp/article/view/VSP150701224M
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Sažetak

Uvod. Hemofagocitna limfohistiocitoza (HLH) je redak, moguće i životno ugrožavajći, upalni sindrom izazvan povećanom citokinskom aktivnošću nastalom na terenu izuzetno stimulisanog, ali neefikasnog imunskog odgovora. Prikaz bolesnika. Prikazali smo 19-godišnju bolesnicu koja je hospitalizovana zbog povišene temperature, bolova u mišićima i zglobovima i bolova u grlu. Nakon kompletne dijagnostičke obrade utvrđeno je da se radi o hemofagocitnoj limfohistiocitozi (7 od 8 HLH-2004 dijagnostičkih kriteriju-ma) uzrokovanoj infekcijom Ebstein-Barr-ovim virusom i intenzivnom fizičkom aktivnošću. Genetska analiza pokazala je tri heterozigotne mutacije u genu Munc-8-2, dve splice mutacije u egzonu 10 (c.795–4 C > t) i egzonu 15 (c.1247–10, C > T) i jednu missence mutaciju c. 1375 C > T; p.Arg 459 Trp, čiji patogenetski značaj nije jasan. Posle lečenja sa kortikosteroidima i ciklosporinom A ostvarena je kompletna klinička remisija. Zaključak. Ovaj prikaz bolesnice ukazuje na to da otkrivene heterozigotne mutacije (čiji patogenetski značaj nije utvđen) u genu Munc-18-2, inače povezanom sa primarnom HLH, mogu biti u osnovi i nekih sekundarnih HLH, izazivanjem delimičnog oštećenja funkcije kodiranog proteina. Ovaj slučaj takođe sugeriše da naporna fizička aktivnost (u očiglednoj sinergiji sa virusnom infekcijom) može biti pokretač HLH.

Ključne reči

lymphohistiocytosis
hemophagocytic||
||limfohistiocitoza
hemofagocitna
inflammation||
||zapaljenje
immunologic factors||
||imunski faktori
physical exertion||
||napor
fizički
ebstein-barr virus infections||
||ebstein-bar virus
infekcije
mutation||
||mutacija
diagnosis
differential||
||dijagnoza
diferencijalna
drug therapy||
||lečenje lekovima
DOI: 10.2298/VSP150701224M

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