A case report of pulmonary alveolar microlithiasis
- VernacularTitle:肺泡微石症1例
- Author:
Yingyun YANG
;
Shuai LIANG
;
Wenjia ZHU
;
Yunxiao MENG
;
Jinmei LUO
- Keywords:
pulmonary alveolar microlithiasis;
SLC34A2 gene
- From:
Basic & Clinical Medicine
2017;37(1):103-106
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report a case of pulmonary alveolar microlithiasis ( PAM) in Peking Union Medical Col-lege Hospital and to summarize the clinical features and genetic characters .Methods The clinical features , ima-ging results , pathology findings and SLC34 A2 gene mutation was analyzed and reported .Results The patient was a 35 years old male, presenting with cough and sputum for 10 years and worsen with short of breath for 3 weeks. Computed tomography of lung and pathology findings support the diagnose of pulmonary alveolar microlithiasis .And a heterozygous mutation c .A910 T in exon 8 of SLE34 A2 gene was discovered through genetic testing .Conclusions Since to the treatment is non-specific in this rare disease , it's significantly important to recognize this disease through early non-specific clinical features but typical imaging findings .And the finding that c .A910 T is more common in Asia population may provide us a potential target for screening and possible genetic engineering therapy .
