Cystic Fibrosis (Cystic fibrosis)

Cystic Fibrosis (Cystic fibrosis)

    * Introduction
    * Signs and symptoms
    * Diagnosis
    * Treatment
Cystic Fibrosis is a common pathological condition, which affects infants hereditary. It is a condition in which the body's internal secretions become viscous and interferes with the function of certain organs like the lungs and digestive tract. It is caused by a defective gene that controls salt and water movement through the cell membrane. When cystic fibrosis occurs, too much salt and insufficient water crosses the cell interior and transform the body of lubricating secretions in sticky and viscous-dense substances. Mucus coagulates in hollow organs of the body, to ducts and passages, and lock them favoring infection.
Defective gene that causes cystic fibrosis is recessive, which means that it takes two separate genes, one from mother and one from the father to form and inherit. Some persons are carriers of the gene and not develop the disease. One person in 25 carries this disease. Doui If parents are carriers of a child, it has 25% bad luck to develop cystic fibrosis.
Symptoms of cystic fibrosis include recurrent lung infections, poor growth staturo-weight, diabetes and infertility. The most characteristic symptoms of CF is salty skin, keeping the appetite but weight gain and decreased size, excess mucus production and coughing / dispnea. Men can become infertile through bilateral absence of the vas deferens. The clinical picture of cystic fibrosis usually appear in childhood. Meconium ileus is a common finding in infants with cystic fibrosis.
Treatment aims at active control of upper airway infections and encourage an effective nutrition and an active lifestyle. Cystic Fibrosis Treatment is for life and wants to maximize function and quality of life affected oragnelor. Treatment can only slow the decline of organ functions is not curative. Treatment targets the lungs, gastrointestinal tract (including insulin and pancreatic enzyme supplementation), reproductive organs (including reproductive health technology) and psychological support. In most cases cystic fibrosis cause an early death. Expected life is 36 years after the CF Foundation estimates.
Today the survival rate is 36 years higher in men than women. Pumonara involvement is progressive, starting with bronchitis, bronchiolitis, and bronchiectasis, and pulmonary heart disease in advanced lung. Complications consist of pneumothorax and haemoptysis. Disorders of sweat can lead to heart attack and salt depletion, more laes children. Mucocelul and mucopiocelul associated with chronic sinusitis and nasal polyps can cause erosion of the sinus wall with central nervous system complications by operation of mucocelului space occupancy. Portal hypertension occasionally cause death from esophageal varices.
Pathogenesis
Malfunction gene encodes salt and water transport through cell membrane causes the symptoms of cystic fibrosis. This defect leads to lack AMPc dependent chloride secretion from different epithelia of exocrine tissues, leading to viscous and difficult to remove secretions in the lungs, sinuses, pancreas, intestine, liver and reproductive tract. The typical patient presents with a multisystem disease involving several or all the organs mentioned.
Respiratory Chronic airway obstruction by viscous mucus secretions is followed by rapid colonization of pathogenic bacteria, including Haemophilus influenzae, Staphylococcus aureus and Pseudomonas aeruginosa. Pseudomonas aeruginosa and several other gram-negative bacteria such as Stenotrophomonas maltophilia, Burkholdenia cepacia, Burkholderia gladioli Burkholderia picketii and frequently adopt a mucoid phenotype that is multidrug resistant.
Late in the disease, persistent infection and bacterial colonization can cause an increased inflammatory response. This viscosity promotes chronic inflammation and airway tissue damage by local accumulation of neutrophils and release of elastase. Lung destruction progresses to bronchiectasis, respiratory failure and impaired lung function.
Intestine Cystic fibrosis gene defects leading to reduced secretion of chloride and water in the intestinal lumen, leading to the birth meconium ileus and distal intestinal obstruction during life. Content decreases intestinal absorption of pancreatic insufficiency. Mechanical problems associated with inflammation, scarring and stricture formation predispose patients to slow the intestinal content and fecal impaction or bowel obstruction by intussusceptie. Adhesions may form, leading to complete obstruction, requiring surgical resection and loss of bowel absorbativ distal epithelium.
Pancreas As part of normal digestion, stomach acid is neutralized by pancreatic bicarbonate, leading to an optimal pH for the action of pancreatic enzymes. Reduced bicarbonate secretion is demonstrated in patients with cystic fibrosis, which affect your digestion. Other factors such as reduced water content of secretions, protein precipitation and impaction ducts and acini, pancreatic enzymes to block the discharge into the intestine. Autodigestia pancreas leads to pancreatitis. Patients with pancreatic insufficiency develops staturo-weight gain associated with deficit in frequency and foul smelling stools, greasy, with colicky pain and flatulence after eating.
Liver The absence of the protein encoded by the gene involved in pathology in epithelial cells lining the bile ducts leads to reduced secretion of chloride and water, with increased bile viscosity. Bile ducts become blocked with secretions, a process extensively, leading to progressive obstructive cirrhosis complicated by esophageal varices, splenomegaly and hypersplenism. Secondary liver involvement may be due to involvement of other organs, such as malnutrition can be social with fatty liver and right heart failure by chronic hypoxia in liver passive congestion. Gallstones are more common in patients with cystic fibrosis.
Causes
Cystic fibrosis or cystic fibrosis is an autosomal recessive disease caused by mutations in the defective CFTR gene, which encodes a protein channel function regulated by AMPc chlorine. Insufficient transport of chloride channel in epithelial cells and cause disorders associated with the viscosity of water transport in the respiratory tract secretions, pancreas, gastrointestinal tract, sweat glands and other exocrine tissues.