TY - JOUR
T1 - International consensus statement on routine blood testing in primary ciliary dyskinesia
AU - Altaraihi, Sarah
AU - Marthin, June K
AU - Anagnostopoulou, Pinelopi
AU - Boon, Mieke
AU - Carr, Siobhan B
AU - Castillo-Corullón, Silvia
AU - Dehlink, Eleonora
AU - Destouches, Damien M S
AU - Duckers, Jamie
AU - Haarman, Eric G
AU - Karadag, Bülent
AU - Kavouridou, Christina
AU - Loebinger, Michael R
AU - Maitre, Bernard
AU - Mazurek, Henryk
AU - Morgan, Lucy
AU - Omran, Heymut
AU - Ozcelik, Ugur
AU - Peckam, Daniel
AU - Pifferi, Massimo
AU - Pohunek, Petr
AU - Qvist, Tavs
AU - Raidt, Johanna
AU - Reix, Phillipe
AU - Ringshausen, Felix C
AU - Robinson, Phil
AU - Robson, Evie
AU - Röhmel, Jobst
AU - Santamaria, Francesca
AU - Schlegtendal, Anne
AU - Ullmann, Nicola
AU - Walker, Woolf
AU - Yiallouros, Panayiotis
AU - Thouvenin, Guillaume
AU - Crowley, Suzanne
AU - Nielsen, Kim G
N1 - Copyright ©The authors 2025.
PY - 2025/5
Y1 - 2025/5
N2 - BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by dysfunction of motile cilia. Symptoms include recurrent and chronic airway infections which can lead to deteriorating lung function and inflammatory destructive lung disease in the form of persistent atelectasis and bronchiectasis. Routine blood testing may be used as a tool for disease monitoring and management. However, currently there are no consensus-based guidelines within the field of PCD. BEAT-PCD together with the ERN-LUNG PCD-Clinical Trial Network aimed to develop an international expert consensus statement on which routine blood tests should be conducted in patients with PCD.METHODS: An international panel of 33 PCD experts from 17 countries was established to generate consensus on routine blood testing in PCD. A modified Delphi technique with three e-survey rounds was used to reach consensus, which was defined as ≥80% agreement for each statement. Two patient representatives were included in the consensus process.RESULTS: The expert panel reached consensus on 51 out of 101 statements (50%) on routine blood testing in children and adults with PCD to be performed at diagnosis, annually and on exacerbation. The statements include biomarkers for inflammation, haemoglobin, iron status, vitamin D, immune function, inhalant allergies, liver and kidney function, and allergic bronchopulmonary aspergillosis.CONCLUSIONS: This is the first international consensus on routine blood testing in PCD. It highlights blood tests that may be relevant to perform at diagnosis, annually and on exacerbation in people with PCD. Further research on the clinical usefulness of routine blood testing in PCD is needed.
AB - BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by dysfunction of motile cilia. Symptoms include recurrent and chronic airway infections which can lead to deteriorating lung function and inflammatory destructive lung disease in the form of persistent atelectasis and bronchiectasis. Routine blood testing may be used as a tool for disease monitoring and management. However, currently there are no consensus-based guidelines within the field of PCD. BEAT-PCD together with the ERN-LUNG PCD-Clinical Trial Network aimed to develop an international expert consensus statement on which routine blood tests should be conducted in patients with PCD.METHODS: An international panel of 33 PCD experts from 17 countries was established to generate consensus on routine blood testing in PCD. A modified Delphi technique with three e-survey rounds was used to reach consensus, which was defined as ≥80% agreement for each statement. Two patient representatives were included in the consensus process.RESULTS: The expert panel reached consensus on 51 out of 101 statements (50%) on routine blood testing in children and adults with PCD to be performed at diagnosis, annually and on exacerbation. The statements include biomarkers for inflammation, haemoglobin, iron status, vitamin D, immune function, inhalant allergies, liver and kidney function, and allergic bronchopulmonary aspergillosis.CONCLUSIONS: This is the first international consensus on routine blood testing in PCD. It highlights blood tests that may be relevant to perform at diagnosis, annually and on exacerbation in people with PCD. Further research on the clinical usefulness of routine blood testing in PCD is needed.
UR - https://www.scopus.com/pages/publications/105009080106
U2 - 10.1183/23120541.01071-2024
DO - 10.1183/23120541.01071-2024
M3 - Journal article
C2 - 40551794
SN - 2312-0541
VL - 11
JO - ERJ Open Research
JF - ERJ Open Research
IS - 3
M1 - 01071-2024
ER -