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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 ACD.
Not all types of interstitial lung disease that occur in adults occur also in children, and vice versa. [4] [5] The group of disorders is heterogenous, and there are different definitions of what exactly should be classed as a ChILD disorder. [1] Childhood interstitial lung disease is a serious condition, with high morbidity and mortality.
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]
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.
However, lung biopsy has several complications and is not always diagnostic. [ citation needed ] Considering its non-invasive methodology, facility of execution, and good patient tolerance, multi-slice spiral CT or CT bronchoscopy should be the test of choice to study cystic lung diseases in particular WCS.
Acute interstitial pneumonitis (also known as acute interstitial pneumonia) is a rare, severe lung disease that usually affects otherwise healthy individuals. There is no known cause or cure. Acute interstitial pneumonitis is often categorized as both an interstitial lung disease and a form of acute respiratory distress syndrome (ARDS).
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 the latest scientific news, trials, and treatments related to rare lung diseases. [citation needed]
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive [1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).