Primary ciliary dyskinesia (PCD), also known as "immotile cilia syndrome" or "Kartagener Syndrome," is considered an unusual cause of persistent wheezing and cough in children. In addition to a chronic cough, this disease is also associated with recurrent or persistent infections of the lung, sinuses, and ears. Occurring in approximately 1 in 15,000 births, PCD is an inherited disease that causes impaired clearance of bacteria from the lung, paranasal sinuses, and middle ear. Half of the patients with PCD have their internal organs reversed, and men are usually infertile.
Occurring in all races, cystic fibrosis (CF) 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 CF has been based on the presence of typical clinical features and positive laboratory studies, including abnormal sweat tests or two identified mutant CF 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 mutant CF genes.
Pseudohypoaldosteronism (PHA) is a rare disease that causes increased lung fluids. Patients can have recurrent episodes of chest congestion and persistent cough.
Idiopathic bronchiectasis is a progressive disease in which there is permanent damage and enlargement (“ectasia” or dilation) of the airways (bronchi) of the lung. Females are more commonly affected than males. Symptoms typically include a chronic cough productive of mucus. Other symptoms may include shortness of breath, coughing up blood, chest pain and wheezing. Those with the disease get frequent lung infections, and often have infection with nontuberculous mycobacteria (NTM). .
Nontuberculous Mycobacterium (NTM) Pulmonary Disease is caused by naturally occurring environmental organisms residing in soil and water. These organisms may infect the airways and lung tissue leading to inflammation in the respiratory system. Females are more commonly affected than males. Symptoms of NTM include cough (which can be non-productive) and shortness of breath. Sometimes patients have poor energy, loss of appetite with weight loss, low grade fevers, or night sweats.