Basic and clinical research progress in pulmonary alveolar microlithiasis
10.16571/j.cnki.1008-8199.2018.10.024
- VernacularTitle: 肺泡微石症的基础与临床研究进展
- Author:
Zi-heng PENG
1
;
Da-peng ZHOU
1
;
Dan-dan SHANG
1
Author Information
1. Department of Biochemistry and Molecular Biology, Basic Medical College of Hebei Medical University, Shijiazhuang 050017,Hebei,China
- Publication Type:Journal Article
- Keywords:
pulmonary alveolar microlithiasis;
SLC34A2;
mutation
- From:
Journal of Medical Postgraduates
2018;31(10):1110-1114
- CountryChina
- Language:Chinese
-
Abstract:
Pulmonary alveolar microlithiasis (PAM) is a rare genetic disease characterized by calcifications within the alveoli in the lung. Mutations in SLC34A2 gene, which encodes a type IIb sodiumphosphate cotransporter, are responsible for PAM, leading to the intra-alveolar accumulation of phosphate which favors the formation of microliths. A "sandstorm" appearance is the typical radiographic presentation of PAM. The hallmark of this disorder is clinical-radiological dissociation, with typical imaging findings, specific pathological findings and closely correlated specific genetic mutations. The disease has an insidious onset, runs a chronic course and the prognosis is poor. There is no effective treatment except for lung transplantation. This article summarizes the epidemiology, molecular genetics and clinical features of pulmonary alveolar calculi.
