Basic and clinical research progress in pulmonary alveolar microlithiasis / 医学研究生学报
Journal of Medical Postgraduates
;
(12): 1110-1114, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-817992
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo prognóstico
Idioma:
Chinês
Revista:
Journal of Medical Postgraduates
Ano de publicação:
2018
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS