Vol 11, No 1 (2020)
Review paper
Published online: 2020-06-30
Paroxysmal nocturnal hemoglobinuria — current state of knowledge, diagnostics, accessible therapies and future perspectives
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Hematologia 2020;11(1):30-44.
Abstract
Nocna napadowa hemoglobinuria (PNH) jest sierocą chorobą o charakterze klonalnym, wywołaną nabytą mutacją krwiotwórczej komórki macierzystej. Mutacja w genie PIGA skutkuje niedoborem lub brakiem na komórkach potomnych białek błonowych związanych z kotwicą glikozylofosfatydyloinozytolu, w tym inhibitorów dopełniacza CD55 i CD59. Brak kontroli nad aktywacją dopełniacza prowadzi do ciągłej hemolizy, co w głównej mierze odpowiada za powikłania zakrzepowo-zatorowe będące zasadniczą przyczyną chorobowości i śmiertelności w PNH. Od roku 2019 dostępna jest w Polsce terapia ekulizumabem, przeciwciałem monoklonalnym zarejestrowanym do leczenia pacjentów z hemolizą i wysoką aktywnością choroby lub powikłaniami zakrzepowymi. Program lekowy poprawił perspektywę pacjentów i zmienił podejście do kwalifikacji do transplantacji alogenicznych komórek krwiotwórczych w naszym kraju. Dodatkowo, w 2019 roku zarejestrowano w Europie rawulizumab, skutecznie kontrolujący hemolizę przy podaży co 8 tygodni. Trwają również badania kliniczne nad nowymi lekami. W opiece nad chorymi leczonymi inhibitorami dopełniacza nie można zapominać o ryzyku infekcji bakteriami otoczkowymi. W opracowaniu przedstawiono patomechanizm kluczowych zaburzeń oraz omówiono współczesne zalecenia diagnostyczne i opcje terapeutyczne w PNH.
Keywords: paroxysmal nocturnal hemoglobinuriahemolysiscomplimentthrombosiseculizumabravulizumab
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