PMC5772952_01
Diagnostic imaging and pathological features of case 1. (A) A chest X-ray exhibiting diffused fine nodules in the lungs, mainly in the middle and lower zones. (B) High resolution computed tomography exhibiting widespread microcalcifications throughout the lungs with ground-glass opacities and septal thickening. (C) Hematoxylin and eosin staining of bronchoalveolar lavage fluid demonstrating a lamellar calcified body with a concentric appearance (magnification, x400). (D) A lung tissue specimen exhibiting numerous introalveolar microliths (magnification, x100).
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A lung biopsy revealed numerous calcified bodies in the alveolar spaces (Fig. 1C and D).
PMC5772952_02
Diagnostic imaging and pathological features of case 2. (A) HRCT imaging of a lung window exhibiting hyperdense micronodular interlobular septal thickening and the black pleura sign in the lungs. (B) HRCT imaging of a mediastinal window demonstrating subpleural intense linear calcification during a bronchoalveolar lavage fluid examination. (C) Hematoxylin and eosin staining of bronchoalveolar lavage fluid demonstrating a lamellar calcified body (magnification, x400). HRCT, high resolution computed tomography.
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The HRCT revealed diffuse, scattered, hyperdense micronodules throughout the whole lungs, accompanied by interlobular septal and bilateral pleural calcific thickening, subpleural cysts between the ribs and calcified parenchyma, referred to as the 'black pleura' sign (Fig. 2A and B). The BAFL examination (performed as above) revealed that the classification of inflammatory cells was normal and the ratio of cluster of differentiation (CD)4+/CD8+ T cells was 0.9 (reference range, 0.9-2.0), but a calcified body was detected (Fig. 2C).
PMC5772952_03
Diagnostic imaging and pathological features of case 3. (A) HRCT imaging of a lung window exhibiting diffuse distribution of small nodules and calcification, mainly in the bilateral lower lobe and subpleural lobe. (B) HRCT imaging of the mediastinal window exhibiting the black pleura sign and calcification deposits along the border of the heart and diaphragm. (C) A hematoxylin and eosin stain of bronchoalveolar lavage fluid exhibiting a calcified body (magnification, x400). (D) A lung specimen exhibiting numerous introalveolar microliths (magnification, x400). (E) Testing of the SLC34A2 gene revealed a mutation IVS2+10G>A in intron 2 and a heterozygous c.910A>T mutation in exon 8. HRCT, high resolution computed tomography.
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A biopsy revealed numerous calcified bodies filling the alveolar spaces of the lungs (Fig. 3C and D). The obtained sequence variants were tested for pathogenicity using Polyphen2 and MutationTaster2. This genetic testing identified an intervening sequence 2+10G>A mutation in intron 2 and a heterozygous c.910A>T mutation in exon 8 of the SLE34A2 gene (Fig. 3E).