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Cellular storage disorders: The syndrome causes a wax-like substance (ceroid) to accumulate in the body tissues and cause damage, especially in the lungs and kidneys. [7] It is also associated with granulomatous colitis, [citation needed], an inflammation of the colon, and with pulmonary fibrosis, [citation needed] a potentially fatal lung disease.
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 ...
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]
PAM is one of the rare lung diseases currently being studied by the Rare Lung Diseases Consortium. Pulmonary Alveolar Microlithiasis 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 ...
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.
Analysis by Asthma and Lung UK found lung diseases were responsible for one in eight emergency hospital admissions in England last year. Lung diseases ‘silently suffocating’ the NHS, charity warns
Video-assisted thoracoscopic lung biopsy is the most definitive technique, but transbronchial biopsy has a yield of over 50% and can also be effective. [82] [83] The safety of the latter procedure in patients with diffuse cystic disease and the profusion of cystic change that predicts an informative biopsy are incompletely understood, however ...
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]