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ACD is a rare disease. As of 2011, about 100 cases had been reported. It is likely an under-recognized cause of death shortly after birth because diagnosis requires microscopic examination of lung tissue or specialized genetic testing, or death can be attributed to severe heart or intestinal congenital abnormalities which frequently occur in ...
Birt-Hogg-Dubé Syndrome patients, families, and caregivers are encouraged to join the NIH Rare Lung Diseases Consortium Contact Registry. This is a privacy-protected site that provides up-to-date information for individuals interested in the latest scientific news, trials, and treatments related to rare lung diseases.
It occurs most often in infants and young children [1] but also has been reported in adults. [2] In a retrospective review of 204 children with lung tumors, pleuropulmonary blastoma and carcinoid tumor were the most common primary tumors (83% of the 204 children had secondary tumors spread from cancers elsewhere in the body). [ 1 ]
The tissue in the lungs becomes thick and stiff, which affects the tissue that surrounds the air sacs in the lungs. [7] Symptoms typically include gradual onset of shortness of breath and a dry cough. [1] Other changes may include feeling tired, and clubbing abnormally large and dome shaped finger and toenails. [1]
While patchy bilateral disease is typical, there are unusual variants of organizing pneumonia where it may appear as multiple nodules or masses. One rare presentation, focal organizing pneumonia, may be indistinguishable from lung cancer based on imaging alone, requiring biopsy or surgical resection to make the diagnosis. [20]
Preservation of lung volumes in the presence of increased interstitial markings is a radiographic hallmark of LAM that helps distinguish it from most other interstitial lung diseases, in which alveolar septal and interstitial expansion tend to increase the lung's elastic recoil properties and decreased lung volumes.
Childhood interstitial lung disease, sometimes abbreviated as ChILD, is a family of rare chronic and complex disorders that affect the lungs of children. [1] In the lungs, these disorders affect the interstitium, which is the space around the alveoli. The alveoli are the air sacs of the lungs. [2] For these disorders, the alveoli are typically ...
Medical diagnosis of pulmonary hypoplasia in utero may use imaging, usually ultrasound or MRI. [12] [13] The extent of hypoplasia is a very important prognostic factor. [14]One study of 147 fetuses (49 normal, 98 with abnormalities) found that a simple measurement, the ratio of chest length to trunk length, was a useful predictor of postnatal respiratory distress. [15]
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