Cystic Fibrosis symptoms

August 12, 2017 17:51 | Genetic Diseases

Cystic fibrosis - nasledstvenyue disorder caused by the presence of a defect in the gene responsible for synthesis of a transport protein.This disruption alters the normal process: the transition of chlorine and sodium ions across the cell membrane.As a result, it violated the ratio of these ions in the cell itself, and beyond.

The disease has a fairly high prevalence: in Europe, the disease occurs in 1 in 2500 newborns.

removal of excess chloride ion cells makes viscous mucus bronchial mucosa of the gastrointestinal tract, as well as endocrine pancreas.This mucus poorly displayed, scoring ducts.This leads to disruption of the physiology of digestion: the necessary enzymes do not act in the gastrointestinal tract, many times increased risk of infectious diseases in the upper respiratory tract, paranasal sinuses.

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

1) congenital form of the disease.This form of the disease occurs in infants - the time of bi

rth the newborn intestine filled with thick feces, causing the phenomena of intestinal obstruction.In most cases, the main method of treatment of this form of the disease is the timely surgical intervention.Fortunately, congenital form of the disease occurs only in 1% of cases;

2) bronchopulmonary form.Product is the result in the upper and lower respiratory tract of viscous mucus, joins the infectious process.Later develop infectious-inflammatory process that often becomes chronic bronchitis, pneumonia.As pro-progression of pathological changes appear high air content in the lungs, the bronchi, 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 formula-fed infants. "The manifestations of this form of the disease associated with deficiency of pancreatic enzymes, resulting in disrupted normal digestion.Later in pathologically !!the process involves the liver and gallbladder.The intestinal form is found in 8% of cases;

4) mixed, or gastro-pulmonary form is characterized by both pathology of the gastrointestinal tract and respiratory system.It occurs in 70% of cases.The clinical manifestations of the disease can be suspected cystic fibrosis, but the final diagnosis of the disease is based on the formulation of the polymerase chain reaction, and the more common method of determining the content of chlorine and sodium ions in the sweat.Even with the early detection of diseases and conducted adequate treatment patients live an average of about 30 years.

This pathology is characterized by a universal function of exocrine glands lesions, usually has a severe course with impaired respiratory function, and digestive system.Often the development of the majority of clinical manifestations of the disease associated with the formation of increased viscosity of mucus.This mechanism is the basis of the two anomalies characteristic of cystic fibrosis: a high concentration of electrolyte (sodium chloride), and liquid sweat to allocate all very viscous mucous secretion glands of the body.Of great importance in the origin of suffering is given metabolic disorders.From the contents of the duodenum and isolated from the faeces of an abnormal protein, which explains the presence of special physical and chemical properties of mucus.In addition, high levels of calcium in secret is accompanied by an even greater increase in the viscosity of mucus.Condensed juice of the pancreas contributes to the amount of chlorides and insufficient content of bicarbonate and water.The difficulty of outflow of viscous secretion leads to its stagnation, followed by expansion of the excretory ducts of glands, glandular tissue atrophy, progressive fibrosis (the replacement of normal tissue organ connective tissue).The defeat of the digestive glands in cystic fibrosis causes significant disturbances of digestion and absorption, leading to the development of malabsorption syndrome.

Changes in cystic fibrosis are more pronounced in the pancreas, intestine, liver, respiratory system.In the pancreas reveal areas of normal tissue replacement gland on connective, proliferation of connective tissue surrounding the ducts and lobules and within them, marked cystic changes of small and medium-sized ducts with thick mucous content.Perhaps a combination of cystic fibrosis with a variety of malformations of the gastrointestinal tract.In the liver, there is a focal or diffuse fatty and protein dystrophy, characterized by accumulation of viscous, thick bile in the bile ducts, bile stasis phenomenon, the development of cirrhosis.Pathological changes in the lungs characterized by the presence of diffuse purulent bronchitis with bronchiectasis (bronchiectasis), and replacement of normal lung connective tissue, found areas of increased airiness of lung tissue, as well as portions of it wears off.In periods of acute inflammation appear foci of pneumonia, viscous mucous-purulent contents in the lumen of the bronchi.The salivary glands, particularly sublingual determined cysts similar to those in the pancreas.

clinical picture of cystic fibrosis varied, dependent on the child's age, the severity of individual organs and systems, the duration of the disease and its complications.

distinguish the following clinical forms of the disease:

1) mixed with the simultaneous defeat of the gastrointestinal tract and respiratory system;

2) predominantly pulmonary;

3) predominantly intestinal;

4) atypical form of cystic fibrosis and erased;

5) meconium ileus.


first month of life: the stomach is increased in size, vomiting of bile, the absence of meconium as a sign of violation of intestinal obstruction (meconium ileus), possible long-icteric period.

early age: a fetid, surround, with increasing frequency of stools, usually from birth, a slow increase in weight, increased appetite, strong, often paroxysmal cough, possibly with vomiting, frequent bronchitis, noisy wheezing due to increased secretion of viscous mucus in the lumen of the largebronchi, prolapse of the rectum (usually toddlers), feeling the salty taste when kissing the skin.In addition, there may be familial cases of infant mortality, or a family history of patients with similar clinical signs.

Clinical manifestations and complications in older age and in adults: a cough with purulent sputum, shortness of breath (at first only during exercise), hemoptysis, wheezing in the lungs, fatty diarrhea, constantly recurring abdominal pain, increasing the thirst, the allocation of large amounts of urine andweight loss due to diabetes mellitus, chronic sinusitis, delayed puberty, infertility in men.

absence of a discharge of meconium is the earliest manifestation of cystic fibrosis that develops in the first hours after birth.This is due to the accumulation in the intestinal loops of thick, sticky mass zamazkoobraznoy meconium, closing lumen.On the 2nd day of life appear anxiety, bloating, vomiting of bile, fluid loss.Status of children severe: skin pale and dry, reduced tissue tone, expressed vascular pattern on the skin of the abdomen.Subsequently, anxiety is replaced by lethargy, weakness, there are palpitations, shortness of breath, growing signs of intoxication.Already in the 2-3 th day of life possible accession of pneumonia complications in the form of bowel perforation (often fatal).Typical X-ray picture of the abdomen - swollen visible small bowel loop, sleeping intestine in the lower abdomen, and in the middle - the phenomenon of the so-called ground-glass.Upon successful surgical treatment of meconium ileus in these patients subsequently experience other symptoms of cystic fibrosis.

addition newborn stool delay can also occur in infants and in older persons suffering from cystic fibrosis.The disease manifests itself slowly painting which developed or acute intestinal obstruction.The abdominal palpable solid fecal matter, often perceived as a tumor.Cases surgery.In the case of the appointment of inadequate doses of pancreatic enzymes intestinal blockage stool can be repeated.

purely cystic fibrosis is characterized by developmental delay and lack of weight gain with well-preserved appetite.Some children develop a slight enlargement of the liver and reducing the amount of blood protein.Vomiting as the only clinical sign of the disease is rare.Affected children usually die within the first six months of life, they rarely live up to 1 year.

edematous gipoproteinemichesky variant cystic fibrosis is rare.Clinically, it manifests poor weight gain despite the natural feeding and a good appetite.Chair, as a rule, the normal consistency, sometimes voluminous and always stinking.By the end of the 1st month of life appear swelling in the lower limbs, then in the lumbar region and in the upper limbs, in a few days, they spread throughout the body.The liver is usually enlarged.Identify decrease in protein content in the blood, often joins anemia.Most children quickly develop inflammatory changes in the lungs and they die suddenly at the age of 2-4 months.Any disease in infancy, occurring with resistant to treatment swelling and decrease the amount of protein in the blood of suspected cystic fibrosis.In the presence of edema leadsman test usually requires repetition and false negative with the disappearance of edema syndrome.

liver changes cystic fibrosis characterized by stagnation of bile and obstructive jaundice appearing in the neonatal period and continuing a long time.Subsequently, the functional state of the liver does not suffer, in most cases, a violation of its functions are not clinically manifested cirrhosis is not diagnosed in a timely manner.After months or years developing portal hypertension with enlargement of the spleen, the appearance of fluid in the abdominal cavity.In some forms of the disease is observed in children rapid development of pathology of the liver in cirrhosis of the transition, whereas in other children have long latent disease course.Children with cystic fibrosis increases the risk of gallstone disease with the appearance of jaundice.

characteristic signs of the disease can be considered poor weight gain, bloating and increased abdominal size, a decrease in muscle tone, more frequent stools, increased stool, sharp offensive, shiny, pale gray feces.In another part of the patients expressed a tendency to constipation, stool with bright, bold, and either remain liquid and smelly, or becomes formalized, dense, sometimes reminiscent of sheep.Children can fall behind in growth.In 70% of observed pain in the stomach, 10-20% - prolapse of the rectum, in 5% of cases revealed a duodenal ulcer process or the small intestine, 25% - secondary or tseliakopodobny disaccharidase deficiency syndrome in 32% of children have a secondary pyelonephritis and urolithiasisdisease on the background of metabolic disorders.10 times more frequent than in the population, those suffering from cystic fibrosis children revealed diabetes.Complaints of dry mouth caused mainly by viscous saliva.Children with difficulty chewing and swallowing dry food during meals consume large amounts of liquid.Saved at first appetite with the development of reduced toxicity.The consequence of prolonged violation digestive processes are severe dystrophy, the lack of a large number of vitamins, metabolic disorders.

Along with intestinal syndrome in patients showing signs of defeat of bronchopulmonary system in the form of hard, often paroxysmal cough with difficult, viscous sputum, shortness of breath rising in the absence of signs of pneumonia.Subsequently developed purulent bronchitis, pneumonia constantly renewed with the transition to the chronic form.

Changes in the digestive and respiratory organs develop gradually.Within 1 - 1.5 months from the first signs of the disease the general condition of the child is not disturbed.About a quarter of patients with cystic fibrosis symptoms develop rapidly against the background of acute respiratory viral infection, is usually complicated severe pneumonia, or as a result of errors in the diet.A more severe course of cystic fibrosis and its less favorable prognosis associated with early (before the age of 1 year) onset.Approximately 30% of young children cystic fibrosis is accompanied by septic manifestations.

In 85-95% of patients with cystic fibrosis affects the respiratory system.Usually, pulmonary syndrome manifests itself at the 1st year of life and is characterized by the development of severe pneumonia with protracted and recurrent course, despite adequate treatment.The process is always reversible.Early formed a variety of complications, there are lung and heart failure symptoms.Perhaps more suitable for cystic fibrosis when the broncho-pulmonary process progresses slowly.

Due to the loss of sodium and chloride toxicity symptoms may occur with vomiting and the development of shock, especially in the hot season, as well as diseases that occur with fever.Of the other complications of cystic fibrosis should be noted spontaneous pneumothorax (the spontaneous emergence of air in the pleural cavity, which leads to compression of the lungs and disruption of their function), acute pancreatitis (inflammation of the pancreas) and the appearance of stones in the pancreas, unrecognized acute appendicitis, osteoporosis, delayed sexual development, multiple polyps of the uterus in older girls and women, multiple polyps of the intestine, reducing the size of the seminiferous tubules and disturbance of their function, decrease the intensity of spermatogenesis (sperm production) and male infertility.

diagnosis of cystic fibrosis is based on a thorough questioning of the patient or his relatives, the clinical data and the results of special tests.First of all not recognize meconium ileus, particularly in the presence of the family of patients with cystic fibrosis.Beyond the neonatal period, the disease diagnosis is based on criteria such as a family burdened, chronic bronchopulmonary process with constant exacerbations and typical radiological changes in lung, pancreatic insufficiency, a positive sweat test.

Cystic Fibrosis Treatment depends on the form of the disease, time of onset and severity of the disease, the general condition of the person, laboratory and instrumental data.Of great importance is the power.Daily kalorazh needs 20-40% more than the age limit, mainly due to the proteins.the latter share is determined individually, depending both on the functional status of the pancreas, and the phase of the inflammatory process in the respiratory tract.Receipt of dietary fats should be limited.When concomitant failure disaccharidase conduct proper dietary adjustment.In addition, common salt is introduced.Pancreatic enzymes with the aim of substitution administered early, usually in large doses.Thinning secretions and improving drainage is used N-acetylcysteine ​​(NAC) and its formulations in the form of inhalation, and through the mouth, as well as intravenously or intramuscularly.Vitamin therapy is carried out in a concerted fashion (by mouth and by injection), especially vitamins A, D, E and K. With a large deficit of body weight, expressed violations of protein metabolism use anabolic drugs, the introduction of plasma protein, amino acid mixtures.

Treatment of pulmonary syndrome includes measures aimed at thinning phlegm and eliminating it from the bronchi, antimicrobial therapy based on sensitization of bacteria to antibiotics.Use eufillin, drugs that activate the metabolism, correcting changes in fluid and electrolyte balance.

great importance are the organization of follow-up and the tactics of the rehabilitation of patients with cystic fibrosis with a pulmonologist and gastroenterologist.