Pulmonary alveolar microlithiasis: an Italian case diagnosed by transbronchial cryobiopsy

Pulmonary alveolar microlithiasis is a rare autosomal-recessive disorder caused by a mutation of the SLC43A2 gene which determines the accumulation of calcium phosphate microliths (calcospherites) in the alveolar spaces. Italy is the country after Turkey with the major cases reported so far. Most of the cases come from Puglia and particularly in a geographical area between Monopoli and Castellana di Grotte. Patients are usually 30 to 50 years of age, and both genders are affected. Here, we have reported the case of a 44-year-old woman, who was born in Castellana di Grotte, to whose diagnosis of pulmonary alveolar microlithiasis was confirmed by transbronchial lung cryobiopsy.