A case of severe pulmonary exacerbation in a young patient with cystic fibrosis in the era of CFTR modulators

被引:0
作者
Lanfranchi, Chiara [1 ]
Rizza, Carmela [1 ]
Russo, Maria Chiara [1 ]
Borzani, Irene [1 ,2 ]
Angileri, Salvatore Alessio [3 ]
Nazzari, Erica [1 ]
Alicandro, Gianfranco [1 ,4 ]
Blasi, Francesco [4 ,5 ,6 ]
Dacco, Valeria [1 ]
机构
[1] Fdn IRCCS CaGranda Osped Maggiore Policlin, Cyst Fibrosis Ctr, Milan, Italy
[2] Fdn IRCCS CaGranda Osped Maggiore Policlin, Pediat Radiol Unit, Milan, Italy
[3] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Diagnost & Intervent Radiol, Milan, Italy
[4] Univ Milan, Dept Pathophysiol & Transplantat, Milan, Italy
[5] Fdn IRCCS CaGranda Osped Maggiore Policlin, Resp Unit, Milan, Italy
[6] Fdn IRCCS CaGranda Osped Maggiore Policlin, Cyst Fibrosis Adult Ctr, Milan, Italy
关键词
Bronchial artery embolization; Cystic fibrosis; CFTR modulators; Elexacaftor; Tezacaftor; Ivacaftor; Hemoptysis; Pulmonary exacerbation;
D O I
10.1016/j.ijid.2024.107190
中图分类号
R51 [传染病];
学科分类号
100401 ;
摘要
The introduction of CFTR modulator drugs like elexacaftor-tezacaftor-ivacaftor (ETI) has transformed the management of cystic fibrosis (CF), significantly improving symptoms, lung function, and quality of life, while reducing reliance on intravenous antibiotics. However, respiratory exacerbations in the CFTR modulators era remain poorly understood from both pathophysiological and clinical perspectives. We present the case of a 20-year-old Caucasian woman with CF (F508del/L1077P) who, after three years of ETI treatment, experienced a severe episode of hemoptysis, despite being almost asymptomatic in the weeks leading up to admission, requiring bronchial artery embolization. Following ETI treatment, auscultatory findings and FEV1 1 changes may be less significant, making the detection of respiratory exacerbation more challenging. This highlights the need for heightened vigilance in managing such cases and underscores the challenge of diagnosing and managing exacerbations in the era of modulators. Long term real-world studies are essential to comprehend the evolving course of the disease during ETI treatment. (c) 2024 The Authors. Published by Elsevier Ltd on behalf of International Society for Infectious Diseases. This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ )
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共 12 条
[1]   Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis [J].
Bacalhau, Mafalda ;
Camargo, Mariana ;
Magalhaes-Ghiotto, Grace A. V. ;
Drumond, Sybelle ;
Castelletti, Carlos Henrique M. ;
Lopes-Pacheco, Miqueias .
PHARMACEUTICALS, 2023, 16 (03)
[2]   Chest computed tomography improvement in patients with cystic fibrosis treated with elexacaftor-tezacaftor-ivacaftor: Early report [J].
Bec, Romain ;
Reynaud-Gaubert, Martine ;
Arnaud, Francois ;
Naud, Romain ;
Dufeu, Nadine ;
Di Bisceglie, Mathieu ;
Coiffard, Benjamin ;
Gaubert, Jean-Yves ;
Bermudez, Julien ;
Habert, Paul .
EUROPEAN JOURNAL OF RADIOLOGY, 2022, 154
[3]   Real-world safety and effectiveness of elexacaf tor/tezacaf tor/ivacaf tor in people with cystic fibrosis: Interim results of a long-term registry-based study [J].
Bower, Julie K. ;
Volkova, Nataliya ;
Ahluwalia, Neil ;
Sahota, Gurvaneet ;
Xuan, Fengjuan ;
Chin, Anna ;
Weinstock, Tanya G. ;
Ostrenga, Josh ;
Elbert, Alexander .
JOURNAL OF CYSTIC FIBROSIS, 2023, 22 (04) :730-737
[4]   IDENTIFICATION OF 4 NEW MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE - I148T, L1077P, Y1092X, 2183AA-]G [J].
BOZON, D ;
ZIELENSKI, J ;
RININSLAND, F ;
TSUI, LC .
HUMAN MUTATION, 1994, 3 (03) :330-332
[5]   Long-term tezacaftor/ivacaftor safety and efficacy in people with cystic fibrosis and an F508del-CFTR mutation: 96-week, open-label extension of the EXTEND trial [J].
Flume, Patrick A. ;
Harris, R. Scott ;
Paz-Diaz, Hildegarde ;
Ahluwalia, Neil ;
Higgins, Mark ;
Campbell, Daniel ;
Berhane, Indrias ;
Shih, Judy L. ;
Sawicki, Gregory .
JOURNAL OF CYSTIC FIBROSIS, 2023, 22 (03) :464-470
[6]   Update on Clinical Outcomes of Highly Effective Modulator Therapy [J].
Gifford, Alex H. ;
Taylor-Cousar, Jennifer L. ;
Davies, Jane C. ;
McNally, Paul .
CLINICS IN CHEST MEDICINE, 2022, 43 (04) :677-695
[7]   Effects of Elexacaftor/Tezacaftor/Ivacaftor Therapy on Lung Clearance Index and Magnetic Resonance Imaging in Patients with Cystic Fibrosis and One or Two F508del Alleles [J].
Graeber, Simon Y. ;
Renz, Diane M. ;
Stahl, Mirjam ;
Pallenberg, Sophia T. ;
Sommerburg, Olaf ;
Naehrlich, Lutz ;
Berges, Julian ;
Dohna, Martha ;
Ringshausen, Felix C. ;
Doellinger, Felix ;
Vitzthum, Constanze ;
Roehmel, Jobst ;
Allomba, Christine ;
Haemmerling, Susanne ;
Barth, Sandra ;
Rueckes-Nilges, Claudia ;
Wielpuetz, Mark O. ;
Hansen, Gesine ;
Vogel-Claussen, Jens ;
Tuemmler, Burkhard ;
Mall, Marcus A. ;
Dittrich, Anna-Maria .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2022, 206 (03) :311-320
[8]   Computed tomography in cystic fibrosis lung disease: a focus on radiation exposure [J].
Joyce, Stella ;
Carey, Brian W. ;
Moore, Niamh ;
Mullane, David ;
Moore, Michael ;
McEntee, Mark F. ;
Plant, Barry J. ;
Maher, Michael M. ;
O'Connor, Owen J. .
PEDIATRIC RADIOLOGY, 2021, 51 (04) :544-553
[9]   Efficacy and Safety of Elexacaftor-Tezacaftor-Ivacaftor in the Treatment of Cystic Fibrosis: A Systematic Review [J].
Kapouni, Nikoletta ;
Moustaki, Maria ;
Douros, Konstantinos ;
Loukou, Ioanna .
CHILDREN-BASEL, 2023, 10 (03)
[10]   Clinical Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor in People with Cystic Fibrosis [J].
Nichols, David P. ;
Paynter, Alex C. ;
Heltshe, Sonya L. ;
Donaldson, Scott H. ;
Frederick, Carla A. ;
Freedman, Steven D. ;
Gelfond, Daniel ;
Hoffman, Lucas R. ;
Kelly, Andrea ;
Narkewicz, Michael R. ;
Pittman, Jessica E. ;
Ratjen, Felix ;
Rosenfeld, Margaret ;
Sagel, Scott D. ;
Schwarzenberg, Sarah Jane ;
Singh, Pradeep K. ;
Solomon, George M. ;
Stalvey, Michael S. ;
Clancy, John P. ;
Kirby, Shannon ;
Van Dalfsen, Jill M. ;
Kloster, Margaret H. ;
Rowe, Steven M. .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2022, 205 (05) :529-539