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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.
The following is a timeline of the Rare Diseases Clinical Research Network: As a result of the Rare Diseases Act of 2002, on February 27, 2003, the ORDR (in conjunction with the National Center for Research Resources (NCRR), the General Clinical Research Consortium (GCRC) Program, and other NIH Institutes) requested applications for a Rare Diseases Clinical Research Network.
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]
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells.
Swyer–James syndrome (SJS), also called Swyer–James–MacLeod syndrome, is a rare disease of the lungs, characterized by a small lung or part of lung. [1] Typical symptoms are of recurrent respiratory tract infections, but some have no symptoms.
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.
The morbidity associated with DIPNECH is due to the associated obstructive lung disease. The lung disease tends to be slowly progressive, but given enough time can lead to significant disability and require supplemental oxygen therapy. [8] There have been reports of lung transplantation in the setting of end-stage DIPNECH. [11]
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