Table 1. Patient characteristics
Case oneCase two
Age at diagnosis yrs5016
ComorbidityIschaemic heart diseaseNephrolithiasis
Significant haemodynamic aortic valve stenosis
HRCTBilateral lobular, cavitating, nodular infiltrates, ground-glass attenuation Intra- and interlobular septal thickening and consolidation of basal areas
Enlarged lymph nodes in the mediastinum
Paraseptally emphysema
Punctuate calcifications in the lung parenchyma
Bilateral increased attenuation involving alveoli, intra- and interlobular septa, fissures and pleura
Signs of fibrosis and calcifications
A kidney stone
Peripheral O2 without supplemental O2 PFTNormal saturation (98%)Normal saturation (98%)
    FEV1 L (% pred)2.97 (72.5)3.55 (74.6)
    FVC L3.61 (71.8)4.14 (73.3)
    TLC L5.22 (70.8)5.03 (74.1)
    Diffusing coefficient mmol·min−1·kPa−1·L−1 (% pred)1.05 (71.7)4.39 (93.4)
    Diffusing capacity mmol·min−1·kPa−1 (% pred)5.36 (49.4)26.11 (81.8)
6-min walk without oxygen
    Distance walked m600480
    Lowest O2 saturationNo desaturationNo desaturation
BAL fluid examinationAlveolar macrophagesMany giant cells
HistopathologyNumerous intra-alveolar rounded calcificated bodies with concentrically lamels in the peripheryNumerous concentrically calcified concretions
Incrustations and calcifications close to the walls of the alveoli
Gene mutation in exon 12 of SLC34A2 gene#Homozygous c.1393-1404delACCHomozygous c.1402-1404delACC
TreatmentPrednisolone/didronate/no treatmentDidronate/no treatment
  • HRCT: high-resolution computed tomography; PFT: pulmonary function test; FEV1: forced expiratory volume in 1 s; % pred: % predicted; FVC: forced vital capacity; TLC: total lung capacity; BAL: bronchoalveolar lavage. #: DNA sequencing analysis of whole coding regions of the SLC34A2 (OMIM *604217) gene T chromosome 4P15.31-P15.2 region (reference sequence: NM_006424.2).