Pulmonary alveolar microlithiasis: A rare familial inheritance with reportof six gases in a family - Contribution of six new cases to the number of case reports in Turkey

Pulmonary alveolar microlithiasis (PAM) is a lung disease characterized by deposits of calcium within the alveoli. Our aim was to emphasize the famili al character and the clinical features of the disease, and to draw attentio n to the increasing number of Turkish patients reported in the world. We de tected 6 cases of PAM. Three cases had been diagnosed 4 years earlier, and 3 new cases were detected during the screening of the family members. All p atients were male and the mean age was 11.5 ranging between 5 and 29 years. Five of the patients were cousins and the other one was their uncle. Radio graphic studies showed a sand-like appearance in all patients. One case sho wed small subpleural bullae and bronchiectatic changes in both lower robes in recent high-resolution CT scans, while his CT performed 4 years ago show ed only sand-like appearance. The cases were diagnosed with the demonstrati on of microliths by bronchoalveolar lavage in 5 patients and transbronchial biopsy in 1. Recently reported cases from Turkey have constituted a consid erable percentage among all cases in the world. In conclusion, (1) our pati ents constitute one of the largest series of cases reported in one family i n the world. The disease seems to have familial and racial characteristics. The Turkish race has to be further investigated for genetic transmission. (2) Contrary to female predominance in previous reports, all 6 cases were m ale and 5 of them were below 12 years of age. (3) The disorder may show rap id progression in some cases probably due to the severity of the genetic di sturbance. Copyright (C) 2001 S. Karger AG, Basel.