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

  • 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.
DOI: https://doi.org/10.2298/VSP150701224M
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,

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.

 

Biografija autora

Olivera Marković, Clinical Hospital Center Bežanijska kosa, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Department of Hematology

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Objavljeno
2017/07/05
Broj časopisa
Vol. 74 Br. 5 (2017)
Rubrika
Prikaz bolesnika