PMC4428364_01
Chest computed tomography scan. Coronal (left) and horizontal (right) images show severe bronchiectasis with large cysts and mucus plugging.
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A chest computed tomography scan revealed very severe bronchiectasis with large cysts and mucus plugging, predominantly in the lower lung segments, suggestive of cystic fibrosis (Figure 1).
Capillary zone electrophoresis. A decrease of the alpha-1 globin peak is notable.
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CFTR gene mutation was found. Capillary zone electrophoresis indicated a marked decrease in alpha-1 globin band 0.18 g/dL, 2.6% (Figure 2).
Sequence of a regular and mutated SERPINA-1 gene. (A) DNA sequencing chromatogram of reference sequence (upper) and patient sequence (middle and lower). (B) Overview of SERPINA-1 gene location, structure, and patient's mutation with DNA and amino acid sequence. (C) Overview of mature, immature, and patient SERPINA-1 protein and domains.. Abbreviations: Fwd-Seq, forward sequence; Rvs-Seq, reverse sequence; UTR, untranslated region.
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This mutation probably leads to a dysfunctional truncated protein lacking the reactive center loop (Figure 3).