title: Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide.
abstract: Pulmonary alveolar microlithiasis (PAM) is a rare disease characterised by the widespread intra-alveolar accumulation of minute calculi called microliths. It is caused by mutation of the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells. The present study explores the epidemiological, familial, genetic, clinical, diagnostic, radiological and therapeutic aspects with the aim of contributing to a better understanding of this uncommon disease.We searched articles on PAM published up to December 2014 and 544 papers were found, accounting for 1022 cases.PAM is present in all continents and in many nations, in particular in Turkey, China, Japan, India, Italy and the USA. Familiality is frequent. The clinical course is not uniform and the causes of this clinical variability seem to be largely nongenetic. The optimal diagnostic procedure is the association of chest high-resolution computed tomography (HRCT) with bronchoalveolar lavage, but a chest radiograph may suffice in families in which a case has already been diagnosed. Moreover, chest radiography and HRCT allow the classification of the evolutionary phase of the disease and its severity. At present lung transplantation is the only effective therapy. However, better knowledge of the gene responsible offers hope for new therapies.
authors.affiliation: District Health Centre, Azienda Sanitaria Locale Bari, Conversano, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castellana
authors.affiliation: Institute of Respiratory Disease, Aldo Moro University of Bari, Bari, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Castellana
authors.affiliation: Medical Genetics Unit, Azienda Sanitaria Locale Bari, Bari, Italy.
authors.forename: Mattia
authors.initials: M
authors.lastname: Gentile
authors.affiliation: Radiology Unit, Azienda Sanitaria Locale Bari, Putignano, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Castellana
authors.affiliation: Institute of Respiratory Disease, Aldo Moro University of Bari, Bari, Italy onofrio.resta@uniba.it.
authors.forename: Onofrio
authors.initials: O
authors.lastname: Resta
mesh_terms: D001706:Biopsy; D018893:Bronchoalveolar Lavage; D002114:Calcinosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000601:surgery; D015897:Comorbidity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000601:surgery; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D008171:Lung Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000601:surgery; D016040:Lung Transplantation; D008297:Male; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D012307:Risk Factors; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: C493557:SLC34A2 protein, human; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb