Cystic Fibrosis Mini Review

To date, around 2200 DNA sequence mutations have been described in CFTR [1,4]. The transmembrane conduction regulatory protein is a protein kinase A 5 and is expressed in many epithelial and blood cells. Although its main function is to regulate the chloride channel, it has other roles including inhibiting sodium transport, regulating adenosine triphosphate (ATP) channels, regulating intracellular vesicle transport, acidifying intracellular organelles, and inhibiting mediated chlorine channels. for calcium. In addition, it is involved in the exchange of chlorine-bicarbonate. The defi cit of bicarbonate in the secretions causes less solubility and aggregation of mucins in the lumen [5,6]. Mucociliary clearance decreases and the airway is chronically colonized by bacteria.

It is the most common severe autosomal recessive hereditary disease in Caucasians [2]. It is currently recognized that no group is an exception [3].
Caused by mutations in the gene encoding the transmembrane conduction regulatory protein (CFTR) on the long arm of chromosome 7 [1]. The most common mutation is the phenylalanine deletion of codon 508 (phe508del, until recently known as ΔF508) [4].
To date, around 2200 DNA sequence mutations have been described in CFTR [1,4]. The transmembrane conduction regulatory protein is a protein kinase A 5 and is expressed in many epithelial and blood cells. Although its main function is to regulate the chloride channel, it has other roles including inhibiting sodium transport, regulating adenosine triphosphate (ATP) channels, regulating intracellular vesicle transport, acidifying intracellular organelles, and inhibiting mediated chlorine channels. for calcium. In addition, it is involved in the exchange of chlorine-bicarbonate. The defi cit of bicarbonate in the secretions causes less solubility and aggregation of mucins in the lumen [5,6]. Mucociliary clearance decreases and the airway is chronically colonized by bacteria.
This produces bronchiectasis, airway obstruction, and eventually respiratory failure, creating a self-perpetuating vicious cycle with infl ammation and decreased clearance [7].
The incidence varies considerably, with extreme situations; in Finland it is low 1/25000 and in Ireland it is high 1/1800. In our country an incidence of 1/3400 to 1/4600 is estimated [8]. In the world it is estimated that there are about 100,000 people affected [9]. In Latin America it is estimated between 1600 to 14000 live births. Underdiagnosis continues to be a problem. For many years it was considered an exclusive disease of pediatric age, since its diagnosis was made during the fi rst years of life and patients died before reaching adulthood [10].
Today, the survival of patients diagnosed in childhood has improved considerably. Those born in the 1990s and diagnosed in infancy are estimated to have a life expectancy of more than 50 years. However, 5% of patients are diagnosed after the age of 16 [11].
The number of adult patients currently exceeds that of children in most developed countries [12].   Table 2 lists the most common gastrointestinal problems [4]. The progression of the disease is characterized by periods of stability interspersed with intermittent episodes of clinical deterioration, called pulmonary exacerbations [14]. There is no defi nition of "exacerbations" but it is essential that they are recognized and treated as soon as possible. Patients in whom they experience changes in their symptoms that may represent an exacerbation should access a specialized center without delay [14]. Treatments of exacerbations may require oral or intravenous antibiotics and it is important not to delay their administration [14]. Care by a multidisciplinary team is essential (Table 3), because not only will antibiotics be required, but also, for example, having a lower appetite will require a higher caloric intake; for these reasons it is necessary to control it by nutritionists or gastroenterologists.
Usually endovenous treatment is performed for 14 days but in some cases it is required to prolong it for 14 days and can even be performed at home so that they can continue with their activities.