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A case report of pulmonary alveolar microlithiasis / 基础医学与临床
Basic & Clinical Medicine ; (12): 103-106, 2017.
Artigo em Chinês | 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 .

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Basic & Clinical Medicine Ano de publicação: 2017 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Basic & Clinical Medicine Ano de publicação: 2017 Tipo de documento: Artigo