The cystic fibrosis it is a common genetic disease in the Caucasian race. It affects 1 / 2,500-5,000 live newborns. It is secondary to the alteration of a gene called CFTR, which encodes the production of a protein also called CFTR. This protein is in the cell membrane, and regulates the passage of molecules called ions into the cell.
Cystic fibrosis is a rare, chronic and inherited disease that also manifests itself during childhood. It mainly affects the lungs and the digestive system.
When this protein (CFTR), present in the cell membrane, malfunctions, some dehydrated and thick secretions, which end up obstructing the gland that generates them. Thus, the pancreas, lungs, intestine, liver, sinuses, genital glands, etc. are affected. Interestingly, all secretions are dry, except for sweat, which is produced in excess. Typically, the parents of these children, when kissing them, comment that they 'taste like salt'.
The most important clinical manifestations are secondary to poor pancreas function (food is not digested properly, so the weight gain is inadequate) and respiratory problems. Pulmonary involvement determines the survival of these patients. Thus, dilatations of the bronchi, bronchitis, pneumonia, etc. are frequent.
The diagnosis includes various measures, such as sweat test or genetic study. There is an early case detection program, which works in some places (such as the Community of Madrid, Spain). It is done through neonatal screening (commonly known as a 'heel test').
Treatment involves a multidisciplinary approach (gastroenterologists, pulmonologists, rehabilitators, nutritionists). There are very notable specific units in different hospitals, such as the Hospital Doce de Octubre, in Madrid (Spain). Today, better and better survival rates are being achieved.
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