Pulmonary Alveolar Microlithiasis with Homozygous c.316g>C (p.G106R) Mutation: A Case Report

Pulmonary alveolar microlithiasis is characterized by the presence ofcalcospherites in alveolar spaces. Sporadic cases are more common, but thedisease also presents in an inherited familial form. The greatest number ofreported cases is from Europe and especially Turkey. We present a 43-year-oldfemale with complaints of dyspnea for many years. She had a suspicious familialhistory of pulmonary alveolar microlithiasis. The surgical lung biopsy specimenappeared gritty and firm. Histological sections showed diffuse involvement ofthe lung parenchyma by innumerable tiny calcospherites. Genetic studies showed ahomozygous c.316G > C (p.G106R) mutation in exon 4 and confirmed thediagnosis of pulmonary alveolar microlithiasis. The present report aims tocontribute to the literature with a pathologically and genetically confirmed newcase to add insight into the etiology of this rare disease. This case confirmsan autosomal recessive inheritance and does not support the role of non-geneticand other factors in the pathogenesis of pulmonary alveolar microlithiasis.