Aa
Does anyone have Pulmonary Alveolar Microlithiasis?
Docs think I probably have this disease but as there are less than 600 reported cases worldwide I just wondered if any of the 600 were members of this website? If so please get in touch. Thanks
Dr Santos thank you so much for your reply - its good to know that someone is familiar with this. I see my specialist tomorrow for results of a CT scan. I had one back in September followed by a broncospopy, lots of blood tests and breathing tests. i'm not sure what tests were carried out but do you think its worth mentioning about the SLC34A2 gene?
MEDICAL PROFESSIONAL
Hi,
How are you? Pulmonary alveolar microlithiasis (PAM) is indeed a rare idiopathic disease characterized by microliths in the alveoli. Although familial association with an autosomal recessive lung disease have also been identified recently. Confirmation of diagnosis of PAM may be done by demonstrating the mutation in the SLC34A2 gene. Aside from this forum,posting at the Genetics forum may also help find other patients with the same condition. Take care and best regards.
How are you? Pulmonary alveolar microlithiasis (PAM) is indeed a rare idiopathic disease characterized by microliths in the alveoli. Although familial association with an autosomal recessive lung disease have also been identified recently. Confirmation of diagnosis of PAM may be done by demonstrating the mutation in the SLC34A2 gene. Aside from this forum,posting at the Genetics forum may also help find other patients with the same condition. Take care and best regards.
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