Cystic fibrosis in children

Cystic fibrosis is a common genetic disease in the Caucasian race. It affects 1 / 2500-5000 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 hereditary disease that also manifests during childhood. It mainly affects the lungs and the digestive system.

Causes of cystic fibrosis in children

When this protein (CFTR), present in the cell membrane, malfunctions,

dehydrated and thick secretions are produced que, which end up obstructing the gland that generates them. Thus, it affects the pancreas, the lungs, the intestine, the liver, the sinuses for nasals, the genital glands, etc. Interestingly, all secretions are dry, except sweat, which occurs in excess. Typically, the parents of these children, when they kiss them, comment that they 'know how to salt'. Symptoms and diagnosis of cystic fibrosis in childhoodThe most important clinical manifestations are secondary to

the poor function of the pancreas

(food is not digested adequately, so that weight gain is inadequate) and respiratory problems. Lung involvement determines the survival of these patients. Thus, dilations of the bronchial tubes, bronchitis, pneumonias, etc. are frequent. The diagnosis includes various measures, such as the sweat test or the genetic study

. There is a program for the early detection of cases, which work in some places (such as in the Community of Madrid, Spain). It is done through neonatal screening (commonly known as the 'heel test'). Treatment of cystic fibrosis in childrenTreatment involves a multidisciplinary approach (gastroenterologists, pulmonologists, rehabilitators, nutritionists). There are specific units that stand out in different hospitals, such as the Hospital Doce de Octubre, in Madrid (Spain). Nowadays survival rates are getting better and better.