case_images: PMC6391319_01
case_images: The images of CT and bronchoscopy in 2014, (A) maxillary sinuses were almost full of secretions, and (B) diffuse liver steatosis was observed. (C) Mild bilateral bronchiectasis was observed in CT, and (D) purulent secretions were observed in bronchoscopy.
case_images: fped-07-00036-g0001.jpg
case_images: PMC6391319_01_fped-07-00036-g0001.jpg
case_images: F1
case_images: Utilizing computed tomography (CT), we identified severe bilateral paranasal sinusitis (Figure 1A) and diffuse fatty infiltration of the liver (Figure 1B) in the patient. In addition, the chest CT scan verified the presence of bilateral bronchiectasis and marked peribronchial thickening, especially in the middle and lower lobes (Figure 1C). Extensive sticky and purulent secretion were observed in the lungs by bronchoscopy (Figure 1D).
case_images: The Sanger sequencing map of the nonsense mutation detected in the parents and patient.
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case_images: PMC6391319_01_fped-07-00036-g0002.jpg
case_images: F2
case_images: T) in the CFTR gene, which was inherited from both his father and mother (Figure 2). This single-nucleotide variant changed an arginine at position 553 into a premature termination codon (p.R553X).
case_images: The images of CT and bronchoscopy in 2016. (A) enlarged spleen and macronodular cirrhosis on the basis of diffuse hepatic steatosis and (B) fatty replacement of the atrophied pancreas indicated by white arrow were observed. (C) Mild bilateral bronchiectasis and (D) purulent secretions were observed.
case_images: fped-07-00036-g0003.jpg
case_images: PMC6391319_01_fped-07-00036-g0003.jpg
case_images: F3
case_images: Abdominal CT showed a wave-like margin of the liver and many areas of multifocal hypoattenuation in the liver, which indicated the occurrence of hepatic cirrhosis on the basis of diffuse hepatic steatosis (Figure 3A). Simultaneously, the patient presented with pancreatic atrophy and splenomegaly (Figure 3B). In addition, both chest CT scan and bronchoscopy showed the characteristics of bilateral bronchiectasis, marked peribronchial thickening, and extensive sticky and purulent secretion, similar to that observed in 2014 (Figures 3C,D).