Báo cáo ca bệnh vi sỏi phế nang có tính chất gia đình liên quan đến đột biến gen SLC34A2

Abstract

Pulmonary alveolar microlithiasis is a sporadic chronic respiratory disease. The disease is characterized by bilateral diffuse lesions due to calcium and phosphate deposition in the alveoli, mainly in the middle and lower lungs. Clinical manifestations are often discreet, with few symptoms, and can be detected incidentally or when the disease progresses to hypoxia or cor-pulmonale. We report a case of a 5-years-old boy with no clinical manifestation who was incidentally discovered with severe bilateral diffuse lung lesions on a chest X-ray. The child was diagnosed and treated for pneumonia, but the lesions did not improve on imaging. Chest X-ray and CT scan showed interstitial lesions with diffuse calcifications predominating in bilateral middle and lower lung lobes. Infectious causes were ruled out by bronchoalveolar lavage fluid tests. The child was diagnosed with pulmonary alveolar microlithiasis when carrying the homozygous recessive mutation SLC34A2.