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  • Cystic Fibrosis Symptoms

    Cystic fibrosis is a hereditary disease due to a defect in the gene responsible for the synthesis of the transport protein. This impairment changes the normal process: the transition of chloride and sodium ions through the cell membrane. As a result, the ratio of these ions is disrupted both in the cell itself and outside it.

    This disease has a fairly high prevalence: in Europe, this disease occurs in 1 out of 2,500 newborns.

    Excessive excretion of chloride ions from the cell makes viscous mucus of the bronchi, the mucosa of the entire gastrointestinal tract, as well as the endocrine part of the pancreas. Such mucus is poorly excreted, clogging the ducts. This leads to a violation of the physiology of digestion: the necessary enzymes do not enter the gastrointestinal tract, the risk of developing infectious diseases in the upper respiratory tract, paranasal sinuses increases many times.

    Depending on the clinical manifestations of the disease, 4 main forms of cystic fibrosis are distinguished: -

    1) congenital form of the disease. This form of the disease occurs in newborns - at the time of birth, the intestines of newborns are filled with a thick stool, resulting in signs of intestinal obstruction. In the overwhelming majority of cases, the main method of treating this form of the disease is timely operative intervention. Fortunately, the congenital form of the disease occurs in only 1% of cases;

    2) bronchopulmonary form. It arises as a result of production in the upper and lower respiratory tract of viscous mucus, an infectious process joins. Later the infectious-inflammatory process develops, which often turns into a chronic form of bronchitis, pneumonia. As the pathological changes progress, there is an increased air content in the lungs, an expansion of the bronchi, a pulmonary heart is formed. Bronchopulmonary form occurs in 20% of cases;

    3) intestinal form. This form is mainly observed in children in the first year of life when there is a transition of children to artificial feeding. "The manifestations of this form of the disease are associated with insufficiency of the enzymes of the pancreas, as a result of which normal digestion is disrupted. Later on in a pathological way! !the process involves the liver and gallbladder. Intestinal form occurs in 8% of cases;

    4) mixed, or intestinal-pulmonary, form is characterized simultaneously by pathology from the gastrointestinal tract and respiratory system. It occurs in 70% of cases. Clinical manifestations of the disease allow suspected cystic fibrosis, but the final diagnosis of this disease is based on the polymerase chain reaction and a more common method for determining the content of chloride and sodium ions in the pot. Even with the timely detection of the disease and conducted adequate treatment, patients live on average about 30 years.

    This pathology is characterized by a universal lesion of the function of exocrine glands, as a rule, has a severe course with impaired function of the respiratory system and digestive system. Often the development of most clinical manifestations of the disease is associated with the formation of mucus of increased viscosity. This mechanism underlies two anomalies characteristic of cystic fibrosis: a high concentration of electrolytes( sodium, chlorine) in the sweat fluid and the secretion of a very viscous secretion by all the mucous glands of the body. Great importance in the emergence of suffering is given to metabolic disorders. From the contents of the duodenum and from the stool, an abnormal protein is isolated, the presence of which explains the specific physicochemical properties of mucus. In addition, a high level of calcium in a secret is accompanied by an even greater increase in the viscosity of mucus. Thickening of pancreatic juice is promoted by an increase in the amount of chlorides and insufficient maintenance of bicarbonates and water in it. The difficulty of the outflow of the viscous secretion leads to its stasis, with the subsequent expansion of the excretory ducts of the glands, atrophy of the glandular tissue, progressive fibrosis( replacement of the normal tissue of the organ with a connective tissue).The defeat of the glands of the digestive system in cystic fibrosis causes significant disruption of digestion and absorption, leading to the development of malabsorption syndrome.

    Changes in cystic fibrosis are more pronounced in the pancreas, intestines, liver, bronchopulmonary system. In the pancreas, the sites of replacement of normal gland tissue by connective tissue, proliferation of connective tissue around ducts, lobules and inside them are found, cystic changes of small and medium ducts with thick mucous contents are noted. A combination of cystic fibrosis with various malformations of the gastrointestinal tract is possible. In the liver there is focal or diffuse fat and protein dystrophy, a typical accumulation of viscous, thick bile in the bile ducts, the phenomenon of stagnation of bile, the development of cirrhosis. Pathological changes in the lungs are characterized by the presence of diffuse purulent bronchitis with the development of bronchiectasis( expansion of the bronchi) and replacement of normal connective lung tissue, areas of increased airiness of the lung tissue, as well as areas of its collapse are detected. During periods of exacerbation of the inflammatory process, foci of pneumonia appear, viscous mucus-purulent contents in the lumen of the bronchi. In the salivary glands, especially in the sublingual, cysts are identified, similar to those in the pancreas.

    The clinical picture of cystic fibrosis is diverse, depends on the child's age, the severity of the lesions of individual organs and systems, the duration of the disease and its complications.

    The following clinical forms of the disease are distinguished:

    1) mixed, with simultaneous lesion of the gastrointestinal tract and bronchopulmonary system;

    2) predominantly pulmonary;

    3) mainly intestinal;

    4) atypical and erased forms of cystic fibrosis;

    5) meconium obstruction.

    Symptoms of

    The first month of life: the abdomen is enlarged in size, vomiting with an admixture of bile, absence of meconium as a sign of impaired intestinal permeability( meconium ileus), a prolonged icteric period is possible.

    Early age: fetid, voluminous, with increasing frequency stool, usually from birth, slow increase in weight, increased appetite, strong, often paroxysmal cough, possibly with vomiting, frequent bronchitis, noisy hoarse breathing due to increased secretion of viscous mucus in the lumen of large bronchi, prolapse of the rectum( usually for beginners to walk children), a sense of salty skin taste with kisses. In addition, there may be family cases of infant mortality or the presence of patients with similar clinical signs in the family.

    Clinical manifestations and complications in older age and in adults: cough with purulent sputum, dyspnea( first only with physical exertion), hemoptysis, wheezing in the lungs, fatty diarrhea, recurring abdominal pain, increasing thirst, high urine output and lossbody weight due to diabetes mellitus, chronic sinusitis, delayed sexual development, infertility in men.

    Absence of meconium deviation is the earliest manifestation of cystic fibrosis, which develops already in the first hours after the birth of the child. This is due to the accumulation in the intestinal loops of thick, sticky putty-like mass of meconium that closes the lumen of the intestine. On the 2nd day of the child's life, anxiety, bloating, vomiting with an admixture of bile, loss of fluid appear. The condition of children is severe: the skin is pale and dry, the tone of tissues is reduced, the vascular pattern on the abdominal skin is pronounced. Subsequently, anxiety is replaced by lethargy, adynamy, there is a rapid heart rate, shortness of breath, the symptoms of intoxication increase. Already on the 2-3rd day of life, pneumonia is possible, the development of complications in the form of intestinal perforation( often with a fatal outcome).An x-ray picture of the abdominal cavity is typical - swollen loops of the small intestine, a collapsed intestine in the lower abdomen, and in the middle a phenomenon of so-called frosted glass. With successful surgical treatment of meconium obstruction, these patients subsequently develop other manifestations of cystic fibrosis.

    In addition to newborns, stool retention can also occur in infants and in older adults with cystic fibrosis. The disease manifests itself as a pattern of slowly or severely developed intestinal obstruction. In the abdominal cavity, solid fecal masses are sensed, often perceived as tumors. Cases of surgical intervention are not uncommon. In the case of inadequate doses of pancreatic enzymes, intestinal obstruction by caloric masses may be repeated.

    Purely cystic fibrosis is characterized by a delay in development and a lack of body weight gain with a continued appetite. Some children develop a slight increase in the liver and a decrease in the amount of protein in the blood. Vomiting as a single clinical sign of the disease is rare. Sick children, as a rule, die during the first half of life, rarely they live up to 1 year.

    Osteo-hypoproteinemic variant of cystic fibrosis is rare. Clinically, it manifests itself as a bad weight gain, despite the natural feeding and good appetite. The stool, as a rule, is normal in consistence, sometimes bulky and always fetid. By the end of the first month of life, edema appears on the lower limbs, then in the lumbar region and on the upper limbs, over a few days they spread throughout the body. The liver is usually enlarged. A decrease in the protein content in the blood is detected, anemia often joins. Most children develop inflammatory changes in the lungs quickly, and they suddenly die at the age of 2-4 months. Any disease in infancy, taking place with resistant to ongoing treatment of edema and a decrease in the amount of protein in the blood, is suspicious of cystic fibrosis. In the presence of edema, a lotion test is usually false-negative and requires recurrence when the edematous syndrome disappears.

    Changes in the liver in cystic fibrosis are characterized by congestion of bile and mechanical jaundice, which appears during the newborn period and lasts for quite a long time. In the future, the functional state of the liver does not suffer, in most cases, the violation of its function is not clinically apparent, liver cirrhosis is not timely diagnosed. In months or years, portal hypertension develops with an increase in the spleen, the appearance of fluid in the abdominal cavity. In some forms of the disease, children develop a rapid development of liver pathology with the transition to cirrhosis, while other children have a prolonged latent course of the disease. In children with cystic fibrosis, the risk of developing cholelithiasis increases with the occurrence of mechanical jaundice.

    A bad increase in body weight, swelling and an increase in the size of the abdomen, a decrease in muscle tone, a stiffening of the stool, an increase in the volume of stool, sharply offensive, shiny, light gray feces can be considered characteristic signs of the disease. The other part of the patients has a tendency to constipation, the feces are light and fat and either remains liquid and fetid, or becomes decorated, dense, sometimes reminiscent of sheep. Children may lag behind in growth.70% have abdominal pain, 10-20% have rectal prolapse, 5% have duodenum or small intestinal ulcer, 25% have secondary disaccharidic insufficiency or celiac-like syndrome, 32% have secondary pyelonephritis and urolithicdisease on the background of metabolic disorders. In 10 times more often than in the population, children suffering from cystic fibrosis are diagnosed with diabetes mellitus. Complaints about dry mouth are caused mainly by viscous saliva. Children can hardly chew and swallow dry food, while consuming a large amount of liquid. The appetite, preserved for the first time, decreases with the development of intoxication. The consequence of a long disturbance of digestive processes is severe dystrophy, a lack of a large number of vitamins, metabolic disorders.

    Along with the intestinal syndrome, the patient has signs of a bronchopulmonary system in the form of a stubborn, often paroxysmal cough with hard-to-remove, viscous sputum, increasing dyspnea in the absence of signs of pneumonia. Subsequently, purulent bronchitis, constantly resuming pneumonia develops into a chronic form.

    Changes in the digestive and respiratory organs develop gradually. Within 1 - 1,5 months from the appearance of the first signs of the disease, the general condition of the child is not violated. About a quarter of patients manifestations of cystic fibrosis develop rapidly against the background of an acute respiratory viral infection, usually complicated by severe pneumonia, or as a result of inaccuracies in the diet. The more severe course of cystic fibrosis and the less favorable prognosis are associated with early onset( at the age of 1 year) onset of the disease. Approximately 30% of young children have cystic fibrosis accompanied by septic manifestations.

    In 85-95% of patients with cystic fibrosis, respiratory organs are affected. As a rule, pulmonary syndrome manifests itself at the 1 st year of life and is characterized by the development of severe pneumonia with a protracted and recurrent course, despite the adequacy of the treatment. The process is always two-sided. Various complications are formed early, symptoms of pulmonary and cardiac failure appear. Perhaps more favorable course of cystic fibrosis, when the broncho-pulmonary process progresses slowly.

    Due to the loss of sodium and chlorine, symptoms of toxicosis with vomiting and development of shock status may appear, especially in hot seasons, as well as in diseases that occur with an increase in body temperature. Of the other complications of cystic fibrosis, spontaneous pneumothorax( spontaneous airflow in the pleural cavity, which leads to compression of the lungs and impairment of their function), acute pancreatitis( inflammation of the pancreas) and the appearance of stones in the pancreas, unrecognized acute appendicitis, osteoporosis, delay in sexual development, multiple uterine polyps in older girls and women, multiple polyps of the intestine, a decrease in the size of the seminiferous tubules and a violation of their function, a decrease in the intensity of spermgenesis( sperm production) and male infertility.

    Diagnosis of cystic fibrosis is based on a thorough inquiry of the patient or his relatives, on clinical data and the results of special tests. In the past, it is possible to recognize meconium obstruction, especially in the presence of patients with cystic fibrosis in the family. Outside the period of newborns, the diagnosis of the disease is based on such criteria as family weight, chronic bronchopulmonary process with constant exacerbations and typical radiographic changes in the lungs, pancreatic insufficiency, positive sweat test.

    Treatment of cystic fibrosis depends on the form of the disease, the time of onset and severity of the disease, the general condition of the person, laboratory and instrumental data. Of great importance is nutrition. Daily caloric content should be 20-40% higher than the age norm, mainly due to proteins. The proportion of the latter is determined individually, depending on both the functional state of the pancreas and the phase of the inflammatory process in the respiratory organs. The intake of fat from food should be limited. With concomitant disaccharidase insufficiency, appropriate dietary correction is performed. In addition, enter the salt. Enzymes of the pancreas with a replacement purpose is prescribed early, usually in large doses. To dilute the secrets and improve the outflow, use N-acetylcysteine ​​(ACTS) and its preparations both in the form of inhalations and through the mouth, as well as intravenously or intramuscularly. Vitaminotherapy is carried out in a combined way( through the mouth and in the form of injections), especially for vitamins A, D, E, K. With a large body weight deficit, pronounced violations of protein metabolism, use anabolic drugs, the introduction of plasma, protein, amino acid mixtures.

    Treatment of pulmonary syndrome includes activities aimed at diluting sputum and liquidating it from the bronchi, carrying out antibacterial therapy taking into account the sensitization of bacteria to antibiotics. Use eufillin, drugs that activate metabolic processes, correct the changes in the water-electrolyte balance.

    The organization of dispensary observation and tactics of rehabilitation of patients with cystic fibrosis with the participation of a pulmonologist and gastroenterologist are of great importance.