A case report of pulmonary alveolar microlithiasis / 基础医学与临床
Basic & Clinical Medicine
;
(12): 103-106, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-509001
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 .
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Basic & Clinical Medicine
Year:
2017
Type:
Article
Similar
MEDLINE
...
LILACS
LIS