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Tom 5, Nr 2 (2024)
Wytyczne / stanowisko ekspertów
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Eksport do Mediów Społecznościowych

Eksport do Mediów Społecznościowych

Standardy opieki w ramach leczenia przyczynowego (w tym z użyciem modulatorów białka CFTR) u osób chorujących na mukowiscydozę*

Kevin W. Southern1, Carlo Castellani2, Elise Lammertyn3, Alan Smyth4, Donald VanDevanter5, Silke van Koningsbruggen-Rietschel6, Jürg Barben7, Amanda Bevan8, Edwin Brokaar9, Sarah Collins4, Gary J. Connett10, Thomas W.V. Daniels11, Jane Davies, Dimitri Declercq, Silvia Gartner, Andrea Gramegna, Naomi Hamilto, Jenny Hauser, Nataliya Kashirskaya, Laurence Kessler, Jacqueline Lowdon, Halyna Makukh, Clemence Martin, Lisa Morrison, Dilip Nazareth, Jacquelien Noordhoek, Ciaran O’Neill, Elizabeth Owen, Helen Oxley, Karen S. Raraigh, Caroline Raynal, Karen Robinson, Jobst Roehmel, Carsten Schwarz, Isabelle Sermet, Michal Shteinberg, Ian Sinha, Constance Takawira, Peter van Mourik, Marieke Verkleij, Michael D. Waller, Alistair Duff
DOI: 10.5603/pp.100991
Pneum Pol 2024;5(2):45-68.

Streszczenie

W mukowiscydozie (CF, cystic fibrosis) rozpoczęła się era terapii „szytej na miarę”, dostosowanej do wariantów genetycznych w genie kodującym błonowy regulator przewodnictwa związany z mukowiscydozą (CFTR, Cystic Fibrosis Transmembrane Conductance Regulator). Modulatory białka CFTR, pierwsze dostępne leczenie przyczynowe, zmieniły sposób leczenia mukowiscydozy. W najnowszych standardach opieki opublikowanych w 2018 roku przez Europejskie Towarzystwo Mukowiscydozy nie uwzględniono wytycznych dotyczących leczenia przyczynowego, ponieważ modulatory białka CFTR były nową opcją terapeutyczną. Opracowaliśmy tymczasowe standardy mające na celu zapewnienie pracownikom ochrony zdrowia wskazówek dotyczących prowadzenia terapii przyczynowej u chorych na mukowiscydozę. Poniżej przedstawiamy oparte na dowodach naukowych wytyczne dotyczące całego zakresu opieki, ustalone na podstawie dowodów z przeglądów systematycznych i opinii ekspertów. Twierdzenia zostały ocenione przez kluczowych interesariuszy z zastosowaniem metodyki Delphi i w przypadku wszystkich twierdzeń po jednym etapie konsultacji uzyskano zgodność na poziomie przekraczającym 80%. Omawiane są kwestie związane z dostępnością i istnieje jednoznaczna zgodność opinii, że wszyscy kwalifikujący się chorzy na mukowiscydozę powinni mieć dostęp do leczenia przyczynowego.

Słowa kluczowe: mukowiscydozaCFTRleczenie przyczynowemodulatory CFTRwytyczne

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