Hromozomska nestabilnost kod bolesnika sa Fankonijevom anemijom u Srbiji

  • Sanja Ćirković Department of Medical Genetics, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”, Belgrade, Serbia
  • Marija Guć-Šćekić Department of Medical Genetics, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”, Belgrade, Serbia; Faculty of Biology, University of Belgrade, Belgrade, Serbia
  • Dragana Vujić Department of Bone Marrow Transplantation with Laboratory for Cryobiology, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia
  • Dragan Mićić Department of Hematology – Oncology, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”, Belgrade, Serbia
  • Dejan Škorić Department of Hematology – Oncology, University Children’s Hospital, Faculty of Medicine, University of Belgrade, Belgrade, Serbia
DOI: https://doi.org/10.2298/1591
Ključne reči: fanconi anemia||, ||anemija, fankoni, diagnosis, differential||, ||dijagnoza, diferencijalna, cytogenetics||, ||citogenetika, chromosome aberrations||, ||hromosomi, aberacije, chromosome disorders||, anomalije,

Sažetak


Uvod/Cilj. Fankonijeva anemija (FA) je retka nasledna bolest hromozomske nestabilnosti sa specifičnom hipersenzitivnošću ćelija na dejstvo DNK-unakrsno-vezujućih agenasa kao što je diepoksibutan (DEB) i mitomicin C. Cilj rada bio je da se utvrdi hromozomska nestabilnost kod bolesnika sa simptomima FA u Srbiji. Metode. Hromozomska senzitivnost na DEB ispitivana je kod 70 bolesnika klinički suspektnih na FA, koji su dijagnostikovani u Institutu za zdravstvenu zaštitu majke i deteta Srbije „Dr Vukan Čupić”, Beograd i Univerzitetskoj dečijoj klinici, Beograd u periodu 2004–2011. godine. Analiza je sprovedena na netretiranim i DEB-om tretiranim 72-časovnim kulturama limfocita periferne krvi bolesnika i zdravih osoba. Rezultati. Kod 10 bolesnika je uočen povećan broj DEB-om indukovanih hromozomskih prekida (FA grupa), kako u odnosu na ostale pacijente (ne-FA grupa), tako i u odnosu na zdrave kontrole. Procenat aberantnih ćelija u FA grupi kretao se u rasponu 32–82%, dok je raspon u grupi od 58 ne-FA bolesnika iznosio 0–6%, a u kontrolnoj grupi 0–8%. Preostala dva bolesnika pokazala su granični odgovor na DEB (FA* grupa) u poređenju sa zdravim kontrolama. Zaključak. Na osnovu citogenetske analize DEB-om indukovane hromozomske nestabilnosti u limfocitima periferne krvi bolesnika suspektnih na FA, dijagnoza bolesti je postavljena kod njih 10. Postavljanje rane i precizne dijagnoze FA je od velikog značaja za dalje lečenje ovih bolesnika, s obzirom na to da se radi o veoma teškom oboljenju sa letalnim ishodom.

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Objavljeno
2015/04/23
Broj časopisa
Vol. 71 Br. 4 (2014)
Rubrika
Originalni članak