Table 1. Patient characteristics.
| Case one | Case two | |
| Sex | Male | Male |
| Age at diagnosis yrs | 50 | 16 |
| Comorbidity | Ischaemic heart disease | Nephrolithiasis Significant haemodynamic aortic valve stenosis |
| HRCT | Bilateral 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 PFT | Normal saturation (98%) | Normal saturation (98%) |
| FEV1 L (% pred) | 2.97 (72.5) | 3.55 (74.6) |
| FVC L | 3.61 (71.8) | 4.14 (73.3) |
| TLC L | 5.22 (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 m | 600 | 480 |
| Lowest O2 saturation | No desaturation | No desaturation |
| BAL fluid examination | Alveolar macrophages | Many giant cells |
| Histopathology | Numerous intra-alveolar rounded calcificated bodies with concentrically lamels in the periphery | Numerous concentrically calcified concretions Incrustations and calcifications close to the walls of the alveoli |
| Gene mutation in exon 12 of SLC34A2 gene# | Homozygous c.1393-1404delACC | Homozygous c.1402-1404delACC |
| Treatment | Prednisolone/didronate/no treatment | Didronate/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).