RT Journal Article
SR Electronic
T1 Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide
JF European Respiratory Review
JO EUROPEAN RESPIRATORY REVIEW
FD European Respiratory Society
SP 607
OP 620
DO 10.1183/16000617.0036-2015
VO 24
IS 138
A1 Giuseppe Castellana
A1 Giorgio Castellana
A1 Mattia Gentile
A1 Roberto Castellana
A1 Onofrio Resta
YR 2015
UL http://err.ersjournals.com/content/24/138/607.abstract
AB 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.Familial, genetic, clinical, radiological and therapeutic aspects of pulmonary alveolar microlithiasis epidemiology http://ow.ly/St3Mw