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.
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?
Copyright 1994-2016 MedHelp International. All rights reserved.
MedHelp is a division of Aptus Health.
This site complies with the HONcode standard for trustworthy health information.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. Med Help International, Inc. is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.