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. 2022 Dec 12;11(24):4013. doi: 10.3390/cells11244013

Figure 1.

Figure 1

The characteristics of a paediatric patient with a DNAH5 mutation. (A) The pedigree structure of the family with DNAH5 mutation. The black squares represent the proband. (B) Sanger sequencing identifying the compound mutations in the patient and mutation-carrier parents. (C) Ultrastructure of the ciliary axonemes from a healthy child and the patient by TEM showing the “9 + 2” structure. The red arrow reflects the partial defect of the outer dynein arm. (D) The results of spirometry in the patient with PCD demonstrating moderate obstructive ventilation dysfunction and small airway airflow obstruction. Pred: predicted value; Act: actual measured value; Act/Pred: ratio of actual measured to predicted values; Sal: measured value after inhaling salbutamol; Improvement: ratio of Sal/Pred to Act/Pred; FVC: forced vital capacity; FEV1: forced expiratory volume in one second; FEV1/FVC: ratio of FEV1 to FVC; FEV1/VC MAX: ratio of FEV1 to VC MAX; PEF: peak expiratory flow rate; MEF 75: maximal expiratory flow after 75% of the FVC has not been exhaled; MEF 50: maximal expiratory flow after 50% of the FVC has not been exhaled; MEF 25: maximal expiratory flow after 25% of the FVC has not been exhaled; MMEF 75/25: maximal mid-expiratory flow. The measurements of FEV1/FVC and FEV1/VC MAX were 84.6% and 84.5%, respectively, suggesting a moderate obstructive ventilation dysfunction. The MEFs of 50 and 25 were less than 65%, suggesting a small airway airflow obstruction. The reference range is shown in brackets; the red boxes indicate abnormal values. (E) The nasopharyngeal CT scan of the nasal sinuses shows pansinusitis in the patient. The red arrow reflects nasosinusitis.