Diseases Studied h1 >
Occurring in all races, cystic fibrosis is the most common, inherited disease of Caucasians, and affects many parts of the body, including the lungs, paranasal sinuses, skin, pancreas, intestines, liver, and male reproductive tract. Historically, the diagnosis of cystic fibrosis has been based on the presence of typical clinical features and positive laboratory studies, including abnormal sweat tests or two identified mutant cystic fibrosis transmembrane conductance regulator (CFTR) genes. However, it is clear that milder or variant forms of the disease exist, in which patients can have lung disease but normal or borderline elevated sweat tests or no identifiable CFTR mutations.Learn More from GDMCC Learn More from GARD
A progressive disorder in which the bronchi (air passages within the lungs that diverge from the windpipe) are permanently dilated (enlarged) and irreversibly scarred. This occurs without a known underlying cause such as recurrent infections, inflammation, aspiration, immunodeficiencies, ciliary abnormalities, or genetic mutations. Symptoms include chronic coughing, hemoptysis (coughing up blood), weight loss, chest pain or tightness, dyspnea (shortness of breath), wheezing, nail clubbing, and fatigue.Learn More
Nontuberculous Mycobacterium Pulmonary Disease
General term for a group of lung disorders caused by specific bacteria known as mycobacteria. This disease is differentiated from the mycobacteria that cause tuberculosis. The most common symptoms include persistent cough, fatigue, weight loss, night sweats, and occasionally dyspnea (shortness of breath) and hemoptysis (coughing up blood). Less frequently, swelling or infection of the lymph nodes, and skin or soft tissue infections occur. Individuals with underlying lung conditions are more at risk for this disorder.
Primary Ciliary Dyskinesia
An inherited condition in which mucociliary clearance of the lungs is impaired. In this disorder, cilia (hairlike structures) lining the airway, sinuses, and middle ears have defective movements, leading to the accumulation of harmful particles and pathogens trapped within mucus. This results in chronic sinusitis, and frequent respiratory and middle ear infections. These recurrent infections may lead to hearing loss, chronic cough, severe lung damage, and bronchiectasis (irreversible scarring and dilation of the bronchi).Learn More from GDMCC Learn More from GARD
Primary immunodeficiencies are a heterogeneous collection of over 400 rare, inherited, chronic disorders in which the immune system functions improperly. Some of these conditions affect a single part of the immune system while others affect multiple components. Affected individual have an increased susceptibility to infection that can involve the skin, paranasal sinuses, middle ears, and the lungs. While many primary immunodeficiencies are diagnosed during infancy and early childhood, atypical forms can present later in life, often with clinical features that overlap with primary ciliary dyskinesia.
A multisystemic, metabolic disorder is divided into two types. Type 1 is characterized by hyponatremia (low blood sodium levels) due to the loss of excessive amounts of sodium in urine, sweat, stool, and saliva. Type 2 is characterized by hypertension (high blood pressure) and hyperkalemia (high blood potassium levels) due to problems regulating sodium and potassium. Symptoms of this disorder mimic (pseudo) low levels (hypo) of aldosterone, the hormone that regulates sodium; however, in actuality, aldosterone levels are high.Learn More