title: Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report.
abstract: Pulmonary alveolar microlithiasis is characterized by the presence of     calcospherites in alveolar spaces. Sporadic cases are more common, but the     disease also presents in an inherited familial form. The greatest number of     reported cases is from Europe and especially Turkey. We present a 43-year-old     female with complaints of dyspnea for many years. She had a suspicious familial     history of pulmonary alveolar microlithiasis. The surgical lung biopsy specimen     appeared gritty and firm. Histological sections showed diffuse involvement of     the lung parenchyma by innumerable tiny calcospherites. Genetic studies showed a     homozygous c.316G > C (p.G106R) mutation in exon 4 and confirmed the     diagnosis of pulmonary alveolar microlithiasis. The present report aims to     contribute to the literature with a pathologically and genetically confirmed new     case to add insight into the etiology of this rare disease. This case confirms     an autosomal recessive inheritance and does not support the role of non-genetic     and other factors in the pathogenesis of pulmonary alveolar microlithiasis.
authors.affiliation: Department of Pathology, Akdeniz University, Faculty of Medicine, Antalya, Turkey. iremhicrang@hotmail.com
authors.forename: Irem Hicran
authors.initials: IH
authors.lastname: Özbudak
authors.forename: Cumhur Ibrahim
authors.initials: CI
authors.lastname: Başsorgun
authors.forename: Gülay
authors.initials: G
authors.lastname: Ozbılım
authors.forename: Güven
authors.initials: G
authors.lastname: Lülecı
authors.forename: Alpay
authors.initials: A
authors.lastname: Sarper
authors.forename: Abdullah
authors.initials: A
authors.lastname: Erdoğan
authors.forename: Fulya
authors.initials: F
authors.lastname: Taylan
authors.forename: Ender
authors.initials: E
authors.lastname: Altiok
mesh_terms: D000328:Adult; D002114:Calcinosis / Q000235:genetics* / Q000473:pathology*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008171:Lung Diseases / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb / Q000235:genetics*
chemical_list: C493557:SLC34A2 protein, human; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb