Rare Diseases Community
Does anyone have Pulmonary Alveolar Microlithiasis?
About This Community:

This patient support community is for discussions relating to rare diseases and disorders. Some example include: Aarskog syndrome, Acoustic Neuroma, Angelman Syndrome, Behcet Syndrome, Bell’s Palsy, Canavan Disease, Carbon Baby Syndrome, Charcot Marie Tooth Disease, Chromosome Monosomy Disorders, Chromosome Trisomy Disorders, Devic's Disease, Dystonia, Ewing’s Sarcoma, Fragile X Syndrome, Immune Thrombocytopenia, Kawasaki Syndrome,Maple Syrup Urine Disease, Mastocytosis, McCune Albright syndrome, Pachygyria, Polycystic Kidney Disease, Prader-Willi Syndrome, Reiter’s Syndrome, Sickle cell anemia, Sturge-Weber syndrome, Trisomy Disorders, Usher Syndrome, Xanthinuria, Zollinger-Ellison syndrome.

Font Size:
A
A
A
Background:
Blank
Blank
Blank
Blank Blank

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
Tags: Pam
2 Comments Post a Comment
Blank
Avatar_dr_f_tn
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.
Blank
4781880_tn?1359395334
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?
Blank
Post a Comment
To
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
Rare Diseases Community Resources
RSS Expert Activity
242532_tn?1269553979
Blank
The 3 Essentials to Ending Emotiona...
Sep 18 by Roger Gould, M.D.Blank
242532_tn?1269553979
Blank
Control Emotional Eating with this ...
Sep 04 by Roger Gould, M.D.Blank
242532_tn?1269553979
Blank
Emotional Eating Control: How to St...
Aug 28 by Roger Gould, M.D.Blank
Top Rare Diseases Answerers
620923_tn?1405964489
Blank
selmaS
Allentown, PA
995833_tn?1375604252
Blank
maatson
Other