in newborns, often "failure to thrive" and the IRT test is done, Classic CF involves malabsorption syndrome, can be meconium ileus at birth, salt residue on skin of baby, mother will say the baby tastes salty. there is a mutation in the CFTR gene , Chrome 7, usually diagnosed under age 1, can be later and can be diagnosed in adults. sx : children have undeveloped sinuses or pansinusititis, chronic "colds", congested cough, constipation or diarrhea (steatorrhea) foul, smelling , floating stools from lack of pancreatic enzymes. Some kids have diabetes early or later in life just to make things more complicated. Chronic dry to wet coughs, that has sticky mucus, that eventually entraps staph and strep and klebsiella and e.coli bacteria in the beginning and later the dreaded Pseudomonas Aeruginosa, which is everywhere, soil, standing water, occ skin, some kids get aspergillus fungal rxn and require steroids for the reaction , others are treated for the fungus. Medication and airway clearance and caloric maintenance levels is high. Numerous pancreatic enzymes for digestions, airway clearance can involve expensive meds, D-nase,or saline in addition to bronchodilators, corticosteroids and acapella or vest therapies and then inhaled Tobi, all done 2x daily or more, and often might miss school due to illness/fatigue, fevers, wt loss, decreased lung function, new bacteria in addition to treated bacteria, anemias, bone loss and freq doc appt or hos admission for picc lines/tune ups or some have port lines and g-tubes for extra feedings. Sweat tests can be negative as well as the common screening panel of 23 most common. there are over 1600 DNA mutations for Cystic Fibrosis. Children born in the USA in 1990's have better chance to live past 40yrs and older. Men that have absence of vas deferens can have CF, but not have lung/sinus sx or have 0-no sperm count. Some people, diagnosed later in life have lung/sinus symptoms just as severe and can have pancreatic preservation. I do. I was dx'd 2008 via DNA , age 50. I was a working RN, not anymore. there is no cure, it can have coughing up blood episodes, collapsed lungs, cysts on the lungs and scarring(fibrosis). Some people do lung transplants, there are not many lungs around for transplant and many are placed on a list about 1-2yrs out, if lung volumes decrease dramatically. 1:4 are carriers, the est CF population in the USA holds around 30,000, with 70,000 worldwide, some of whom don't get treatment or die before their 1st/2nd birthday. I think there are more than 30,000 USA, many are not diagnosed that should be. Ambry Genetics is the main DNA testing lab in the USA, there are otherss. Try cff.org and cfww.org.
When bacteria gets in your lungs, the immune system responds with neutrophils, the breakdown products cause more inflammation and scarring, that's the current theory. Pseudomonas can be erradicated early, but, later it stays chronic and resp sx are cause of death/elevated carbon dioxide levels, enlarged spleen,.heart, etc
some of the symptoms of CF are recurrent chest infections, failure to thrive and salty tasting sweat, there are many complications of the disease including diabetes and liver problems.
There is no cure for this horrible, vile, heartbreaking disease
Cystic Fibrosis is characterized by congestion of the throat, difficulty breathing and a nasal voice. unfortunately there is not a cure for it. but there is therapy to clear the mucus out of your lungs.
Google "cystic fibrosis".