Sweat chlorides. Why a person sweats and features of the mechanism of sweating. Diagnostic criteria for cystic fibrosis
Cystic fibrosis - cystic fibrosis- an autosomal recessive disease caused by a gene mutation on the 7th chromosome, the main function of which is the regulation of the transport of water and salts, especially through cell membranes through a special protein - cystic fibrosis transmembrane regulator (CFTR).
Diagnostic criteria
At least one characteristic clinical symptom must be present (respiratory, profuse sweating, gastrointestinal), or siblings with cystic fibrosis, or positive neonatal screening and sweat chlorides greater than 60 mEq/L, or presence of 2 CFTR genes, or positive difference in nasal transmembrane potential.
Quantitative pilocarpine iontophoresis sweat test (correctly performed)
Significant concentration chloride in sweat(more than 60 meq / l) is constantly observed in cystic fibrosis. Increased content (more than 60 meq / l) or increased to a lesser extent; is determined in almost all homozygotes, 3-5 times higher than in healthy individuals or patients with other diseases. They are determined from the moment of birth to death, and the degree of impairment does not depend on the severity of the disease or the involvement of the organ in the pathological process. Sweat volume is not increased.
Sweat chlorides: 40-59 meq/l, this level is considered borderline and requires further investigation. An indicator less than 40 meq / l is the norm. May be normal in nonclassical cystic fibrosis. In 2% of patients with cystic fibrosis, the figure is 60 meq / l. In rare cases, patients with a borderline value of the indicator have a mild course of the disease.
Plasma potassium is of no diagnostic value because it partially covers normal values.
Different levels of indicators in sweat can be found in patients with fibrocystic disease, and in healthy people with minimal deviation.
Sweat indicators (average values are indicated, meq / l):
1. Chlorides
- Cystic fibrosis - 115 (79-148)
- Norma 28 (8-43)
- Cystic fibrosis 111 (75-145)
- Norma 28 (16-46)
- Cystic fibrosis - 23 (14-30)
- Norm - 10 (6-17)
Note: The sweat conductivity test is not equivalent to the chloride concentration test. Sweat conductivity index - screening test; a value of more than 50 meq / l - a quantitative indicator of chlorides in sweat. The electrical conductivity is approximately 15 meq/l, which is higher than the concentration in sweat.
The concentration of chlorides in sweat
The concentration of chlorides in sweat 60 mEq/L at 2 measurements has a sensitivity of 90% with characteristic clinical manifestations or in family history and confirms the diagnosis of cystic fibrosis.
Analysis result interpretation
Sweat testing is fraught with numerous technical and laboratory errors, so the tests should be duplicated at least twice and on different days, taking more than 100 mg of sweat for research.
Scores in healthy individuals may be increased, as in patients with fibrocystic disease, and the increase is rapid (for example, during exercise, high temperature), but pilocarpine stimulation does not cause an increase in sweating.
Mineralocorticoids reduce the concentration of sodium in sweat by about 50% in healthy people and by 10-20% in cystic fibrosis, in the latter case, the final sodium concentration is significantly higher than normal.
An increase in the concentration of chlorides in sweat
- Endocrine disorders (eg, untreated adrenal insufficiency, hypothyroidism, resistance to, diabetes, familial hypoparathyroidism,).
- Metabolic disorders (eg, malnutrition, glycogen storage disease type I, IH or IS, fucosidosis).
- Genitourinary disorders (eg, Klinefelter's syndrome, nephrosis).
- Allergic-immunological diseases (for example, prolonged infusions of prostaglandin E1, atopic dermatitis).
- Neuropsychiatric disorders (eg, anorexia).
- Others (eg, ectodermal dysplasia, G-6-PD deficiency).
- Laboratory findings secondary to complications that also suggest a diagnosis of cystic fibrosis.
- Respiratory disorders
- Chronic diseases of the lungs (especially the upper lobes) with a decrease in pO2, an increase in CO2, metabolic alkalosis, severe recurrent infection, cor pulmonale, also nasal polyps, pansinusitis; no change on x-ray of the sinus largely rules out cystic fibrosis.
- With bronchopulmonary lavage, an increased content of polymorphonuclear is usually found (for comparison: more than 50% in cystic fibrosis and 3% in healthy people) with a significant increase in the absolute amount, which reliably indicates cystic fibrosis even in the absence of pathogens.
- Bacteriological research involves special techniques. In 25% of children under 1 year old, Staphylococcus aureus and pseudomonas are detected in 20% of crops from the respiratory tract; in adults, pseudomonas grows in 80% of cases and S. aureus in 20%. H. influenzae is found in 3.4% of crops. Pseudomonas aeruginosa is found significantly more frequently after treatment for staphylococcal infections, and specific identification and suggestive tests should be performed for P. auruginosa. The definition of P. cepacia infection is more significant in children after one year of age. An increase in serum antibodies against P. aeruginosa may document a suspected infection in a negative culture.
- Gastrointestinal disorders
- or acute relapsing.
- Pancreatic insufficiency: up to one year of age more than 90%; in adults - 95%. Violation of protein nutrition, hypoproteinemia; violation of fat with vitamin B deficiency in feces and duodenal contents indicates a lack of trypsin processing of gelatin; informative test up to 4 years of age; decreased production of chymotrypsin.
- Altered tolerance to glucosuria in 40% of patients and hyperglycemia in 8% of cases precede the development of diabetes.
- Liver diseases, including cirrhosis, fatty liver, stricture of the biliary tract, cholelithiasis, etc., in 5% of cases. in 20% of children with this pathology, it can persist for months.
- Meconium ileus in infancy is a cause of neonatal intestinal obstruction; is detected at birth in 8% of children in this group. Almost all children will develop the clinical picture of cystic fibrosis.
- Increased incidence of gastrointestinal cancer.
salt loss syndrome
- Hypochloremic and hypokalemia due to excessive loss of electrolytes in sweat and stool.
- Acute salt depletion.
Consequences of anomalies of the genitourinary tract
- Aspermia (complete absence of spermatozoa according to the results) in 98% of cases due to obstructive changes in the vas deferens and with epididymitis, confirmed by testicular biopsy.
- Serum chloride, sodium, potassium, and within normal limits until complications develop (eg, chronic lung disease with accumulation of CO2, and massive loss of salts with profuse sweating can cause hypokalemia). Electrolytes in urine are normal.
- In the saliva of the submandibular gland, a slight increase in chlorides and sodium, but not potassium, a significant excess of the norm prevents diagnostic use.
- The saliva of the submandibular gland is cloudy, with an increased content of calcium, total protein and. These changes are usually not found in saliva from the parotid gland.
- Serum protein electrophoresis detects an increase in the content of IgG and IgA with the progression of a pulmonary disease, there is no noticeable increase in IgM and IgD.
- Serum is often low (due to hemodilution with cor pulmonale; may be detected before clinically significant involvement of the heart in pathology).
DNA genotyping(use for analysis or buccal mucosal scarification) to confirm the diagnosis of cystic fibrosis, based on two mutations, is highly specific but not sensitive. A diagnosis of cystic fibrosis is suggested, but the absence of gene mutations does not rule out cystic fibrosis due to the large number of alleles. In a significant number of patients with cystic fibrosis, it is not possible to determine gene mutations. The study should be performed if sweat tests have borderline values or are negative. Can also be used to identify carriers.
The genotype may be associated with the severity of the disease. The genotype cannot be used as the sole diagnostic criterion for cystic fibrosis.
Neonatal screening using dry filters to measure immunoreactive trypsin is used to confirm sweat tests or genotyping. The norm is noted in approximately 15% of infants, an increase in false-negative values with meconium ileus. Doctors cannot diagnose cystic fibrosis in 30% of children before the end of the first year of life.
Prenatal examination of chorionic villus samples in the first trimester or obtained by amniocentesis in the second or third trimesters: more than 1000 mutations in the CFTR gene (transmembrane conductance regulator in cystic fibrosis), but only 25 are counted in about 90% of carriers. 52% homozygous for aF508 and 36% heterozygous for dE508/other mutations.
Measuring nasal electrical potential difference can be more reliable than sweat tests, but it is much more difficult: -46 mV in patients and -19 mV in healthy people.
Cystic fibrosis of the pancreas - cystic fibrosis was last modified: October 29th, 2017 by Maria Saletskaya
Others - in connection with various diseases. Scientists long ago found out that sweat is a hypotonic solution, 99% consisting of water. Also present in sweat: sodium chloride ( ordinary table salt), urea and ammonia.
In a smaller amount contains: lactic, citric and ascorbic acids. And in scanty amounts there are magnesium, phosphorus, potassium, calcium, sulfur, uric acid and protein.
The protective function of the skin is realized by mixing sweat and fat from the sebaceous glands on its surface. An invisible film is formed that protects the skin from harmful effects.
CHEMICAL COMPOSITION OF Sweat
The chemical composition of human sweat contains Sodium Chloride 0.66-0.78%, Urea is 0.051%, Ammonia - from 0.011% to 0.012%.
The rest of the chemicals are so-called "trace amounts", and an increase in their content in sweat indicates a health problem.
One of the functions of the skin is excretory. Therefore, the composition of sweat is similar to chemical composition urine. This explains the fact that in diseases of the kidneys, when they cannot normally filter and purify the blood from protein decay products (urea, uric acid, ammonia), sweat begins to smell like either urine or ammonia.
In some people, chlorides are excreted intensely with sweat, this sometimes leads to a lack of a substance in the blood.
Under normal conditions, the chemical composition of sweat is constant. Interestingly, different parts of the human body produce sweat of different composition. Let's take chlorides as an example. Most of all they are found in the sweat that is produced by the sweat glands of the neck, the least - in the skin of the legs, thighs and the back of the hands.
WHEN SHOULD I DO A Sweat Test for Chlorides?
Analysis for sweat chlorides is most often done in children if there is a suspicion of a disease with the complex name "cystic fibrosis". With cystic fibrosis, the content of chlorides in sweat and saliva increases dramatically.
When do pediatricians begin to suspect this disease? It all starts in infancy, because cystic fibrosis is a hereditary disease. A persistent cough, sputum is difficult to pass, frequent pneumonia should alert the doctor.
This genetic failure is transmitted equally to both boys and girls, all organs that produce a liquid secret are affected: bile, saliva, sweat, mucus. These biological liquids become viscous, hence the symptoms of the disease. When the secretion of the pancreas thickens, its ducts become clogged, digestive processes are disrupted: abdominal pain and diarrhea may occur.
The development of the child is slow because the cells do not receive enough nutrients. This unusual disease is also described as "salty kiss disease". That was the name of her mothers, who noticed that their child tasted salty when kissed. Salt can appear on the skin in the form of stains from small crystals.
VOLATILE SUBSTANCES IN Sweat
Volatile sweat pheromones are responsible for choice of partner
Volatile substances of sweat determine its smell, therefore they have importance from an aesthetic point of view. During reproduction and subsequent decomposition of bacteria, volatile fatty acids are formed. They are responsible for the disgusting smell of old sweat (this smell is called osmidrosis).
In addition, sweat contains volatile substances that are not perceived as an odor, but the human nose is able to catch them. They are called pheromones and play a big role in a person's choice of a sexual partner. Yes, yes, sometimes it turns out that the composition of your sweat attracts or repels members of the opposite sex.
SWEET - IS IT GOOD OR BAD?
Many people are concerned about the question - is sweating good or bad? .. But there is no definite answer to it, because sweating is a natural reaction of the body to physical and psychological (emotional) factors. Sweat cools us in the heat and does not allow the body to overheat during physical exertion or in synthetic clothing. In these cases, sweating certainly benefits the person.
But there is excessive sweating, when the secretion of sweat increases so much that it is impossible to shake hands with a friend because of wet palms or clothes get dirty and get wet. Then, of course, life becomes not a joy, sometimes you have to change your profession (most often with the palmar form of the disease, when objects slip out of sweaty hands). Neurosis, suspiciousness and anxiety may develop.
There are many different ways getting rid of excessive sweating - both medical and surgical.
There is nothing good in another kind of excessive sweating, when it manifests itself as one of the signs of another disease (for example, tuberculosis, AIDS or cancer). In such cases, you need to start treating a terrible disease as soon as possible. The most important thing here is diagnosis, because a correct and timely diagnosis helps the doctor to cure both the underlying disease and excessive sweating.
About sweating
Galina Lvova
If you smell sweat
what a delicious smell.
your cutie! do not snooze,
gene set - dad.
the call of nature - rules the ball,
and the calculation is correct.
Significance of sweating according to tradition
old asian medicine
Perspiration– sweating plays an important role when judging the outcome -
The body has many functions, and one of them is the release of sweat in humans. This process is characterized by the formation and excretion of fluid through the skin. The composition and other characteristics of it speak about the state of health. For this reason, each person needs to know what diseases are diagnosed thanks to a clear liquid.
What is sweat?
The work of the human body is aimed at maintaining normal life and protecting against external factors, stress, poisoning. In addition to the excretory system, sweat and the mechanism of its production take care of human health. It is a clear liquid that has a salty taste and is essential for the body. The production of a secret and its appearance on the surface of the skin is done reflexively, which means that life is out of danger.
Chemical composition
Sweat removal is beneficial for the health and normal functioning of all organs and systems. Clear liquid composed of water, salt or sodium chloride and organic matter in the form of urea and ammonia. Briefly, the chemical composition of human sweat is as follows:
- ascorbic, citric, lactic acids;
- phosphorus, potassium, calcium, magnesium, sulfur and others.
Alkaline sweat can harm the epidermis, which has a high acid index, and too acidic composition leaves stains on clothes. Low salt content affects the level of acidity, that is, sweating emits acidic sweat. Calculated by the formula, the PH values of sweat fluctuate in the range - 3.8-5.6 - general meaning throughout the body, 6.2-6.9 - armpits and groin area.
The chemical composition of skin secretions is similar in composition to urine.
During life, the formula of the liquid does not change. At the same time, its composition in different parts of the body has individual characteristics. Sweat chlorides are present in the highest concentration in the neck area. The armpits, hands, thighs and legs produce this substance in smaller volumes. In addition to chemical components, the fluid produced by the skin includes volatile substances - pheromones, which help in choosing a sexual partner.
Through the skin with sweat, all toxins and slags are removed.People sweat for several reasons, and the main one is that sweat cools them down. First of all, it is the maintenance of normal body temperature at physical activity, that is, the evaporation of sweat cools the surface of the skin. And also this function is responsible for the elimination of toxins. Sweat appears to remove heavy metals and salts. Stress and nervous tension also cause the skin to produce fluid. A clear liquid helps the body not to overheat and balance the work of internal organs.
Mechanism of sweating
Fluid production is a complex physiological process. The mechanism starts in the brain, where the central nervous system evaluates the external environment and the state of the body and transmits a signal to the glands of the epidermis to develop a secret. This can happen both noticeably and unnoticed by others. There are pathological conditions when the body loses more moisture.
What affects the intensity of sweating?
Physiological sweat volume maintains health parameters such as normal body temperature and healthy skin. However, the volume changes under the influence of external and internal factors. Heavy physical labor, heat, diseases and other loads increase the volume of fluid that is released during the load of the gland. It is worth knowing that the pores work during sleep. This happens in certain areas, not throughout the body.
Normal amount of human sweat
Scientists and doctors have found that each person produces a different amount of sweat. Normally, a person excretes at least 600 ml and no more than 10 liters per day - useful sweating. Quantity depends on environment. It helps to keep all body functions in working order. The norm is considered to be excretion by the epidermis up to 12 liters. Long-term work of the excretory system of the skin (production from 3 liters per hour) is a violation of sweating, which is harmful and dangerous for the body. This condition leads to dehydration.
What is a sweat gland?
The structure of the sweat gland.The entire skin releases moisture. The pores work with different intensity and there are objective reasons for this - external and internal, for example, weather conditions, stress, health status. Each such channel is a tubular formation located in the deep layers of the epidermis. It has a twisted shape in the secretion area. The direct section or duct delivers fluid to the surface of the epidermis.
The total area of the pores on the skin is 5 square meters.
Types of sweat glands
Distinguish the following types secretion-producing organs:
- eccrine;
- apocrine.
The eccrine type provides fluid throughout the body and works from the first day of a baby's life. Sweat is secreted from this species for thermoregulation. The secret evaporates from the surface of the skin and lowers the temperature. Therefore, more fluid is produced from the eccrine glands than from the apocrine glands, they are smaller in size, and they also play a key role in sweating.
Apocrine type - large channels located on certain areas of the skin. Their functioning starts at puberty in girls and boys. The secret is formed in the lower part, but is not displayed on the surface of the epidermis, but enters the hair follicle. This type works when a person is experiencing a strong emotional shock. In women, sweating fades with the onset of menopause. The secret is a sticky sweat of a milky appearance, formed due to their glands. It contains fats, hormones, proteins and volatile acids. Such a secret smells sharply, and due to the composition it acquires individual characteristics.
Where are they?
Thanks to these glands, moisture is released in humans.
Eccrine glands are distributed evenly throughout the skin. In contrast to them, apocrine have a clear localization:
- under the arms;
- in the groin;
- on the skin of the forehead and bridge of the nose;
- genitals;
- in the crotch.
The location of the pores on the body plays an important role. Their number reaches 2-2.5 million. The main areas are the scalp, palms, feet. Sweating occurs depending on the emotional state and health of a person, on the environment. At the same time, there are no holes on the skin in the area of the red border of the lips and on the mucous membranes of the mouth, genitals, which secrete a secret.
Answer from Yergey Troshin[guru]
Sweat is a colorless liquid secreted by the sweat glands. Contains mineral salts, urea, uric acid and other metabolic products. Evaporating from the surface of the body, it increases heat transfer and helps maintain a constant body temperature. from (sudor) - the secret of the sweat glands, which is a colorless, slightly opalescent, salty-tasting liquid. At room temperature, a person releases 400 - 600 ml of sweat per day. Sweat contains 98 - 99% water, nitrogenous substances (urea, urinary acid, creatinine, ammonia), some amino acids (serine, histidine), traces of protein, urocanic acid, volatile fatty acids, soaps, cholesterol, alkali metal salts (sodium chloride predominates, approx. 0.5%), paired ethereal sulfuric acids and aromatic hydroxy acids, glucose, vitamins, biogenic amines, for example. acetylcholine, catecholamines, histamine, steroid hormones. The average content of sodium in sweat is 134 mg / 100 ml, potassium - 39 mg / 100 ml, chlorine - 161 mg / 100 ml, calcium - 0.7 mg / 100 ml, magnesium - 2.4 mg / 100 ml, phosphorus - 3.5 mg / 100 ml, iodine, copper, manganese, iron - traces. Under normal conditions, approx. 360 mg of nitrogen per day. The amount of histamine in sweat is sometimes higher than in the blood. In some individuals, chloride is excreted with sweat, which can lead to a lack of sodium chloride in the body. The concentration of sodium and calcium in sweat is less than in the blood, which indicates the retention of these substances in the sweat glands. Potassium is contained in sweat in large quantities only at the beginning of sweating, and then its amount decreases. Under physiological conditions, the qualitative composition of sweat varies little. However, its composition and active reaction are not the same in different areas of the skin; e.g. , the largest number chloride is determined in the sweat of the sweat glands of the neck, the smallest - in the sweat of the sweat glands of the thighs, legs and rear of the hands. The sweat of the apocrine glands contains a significant amount of lipids. The sweat of humans and carnivores is characterized by an acidic, and that of herbivores by an alkaline reaction; The pH of the sweat secreted by the eccrine glands ranges from 3.8 to 5.6; The pH of the sweat of the apocrine glands is in the range of 6.2 - 6.9. The most acidic is the sweat released during hyperhidrosis; however, after prolonged sweating, its active reaction gradually approaches neutral. Specific gravity sweat fluctuates between 1.001 and 1.006, in rare cases it reaches 1.010. Sweat may have an unpleasant odor, mainly due to the presence of volatile fatty to-t formed during its bacterial breakdown (see osmidrosis). The content of mineral and organic substances in sweat varies depending on the nature of nutrition and general condition organism, for example, the iodine content is greatly influenced by functional activity thyroid gland. With a sharp restriction of salt in food, with the introduction of ACTH, the content of sodium and chlorine in sweat decreases, with Addison's disease it increases. That. , the amount of sodium and chlorine in sweat reflects the degree of activity of the adrenal cortex, affecting electrolyte metabolism. During muscular work, especially during sports, sweat contains a significant amount of lactic acid (up to 500 mg / 100 ml or more) and an increased amount of nitrogenous substances (up to 1 g of nitrogen per day). The total amount of substances excreted with sweat is determined by the amount of sweat formed during the day, often reaching 1 liter, and under certain conditions - 2 liters or more. With sweat, from 2 to 30 g of sodium chloride and up to 1 - 2 g of nitrogen can be released. At diabetes in sweat, the content of glucose increases, and in liver diseases - bile acids. With uremia and cholera anuria, the amount of urea secreted by the sweat glands can increase so much that it is deposited on the skin in the form of crystals - urhidrosis. Mercury, arsenic, iron, iodine, bromine, quinine, benzoic, succinic, tartaric, hippuric, salicylic acids, salol, antipyrine, methylene blue and other substances appear in sweat when they are introduced into the body.
Cystic fibrosis in children is caused by a defective gene that controls salt absorption in the body. With a disease, too much salt and not enough water enters the cells of the body.
This turns the fluids that normally "lubricate" our organs into thick, sticky mucus. This mucus blocks the airways in the lungs and clogs the gaps in the digestive glands.
A major risk factor for developing cystic fibrosis is a family history of the disease, especially if either parent is a carrier. The gene that causes cystic fibrosis is recessive.
This means that in order to have the condition, children must inherit two copies of the gene, one each from mom and dad. When a child inherits only one copy, he does not develop cystic fibrosis. But this baby will still be a carrier and can pass the gene on to his offspring.
Parents who carry the CF gene are often healthy and asymptomatic, but will pass the gene on to their children.
In fact, according to various estimates, up to 10 million people may be carriers of the cystic fibrosis gene and not know about it. If mom and dad have a defective cystic fibrosis gene, then they have a 1:4 chance of having a child with cystic fibrosis.
Symptoms
The symptoms of cystic fibrosis are varied and can change over time. Typically, symptoms in children appear for the first time in a very early age, but sometimes they reveal themselves a little later.
Although this disease causes a number of serious health problems, it mostly damages the lungs and the digestive system. Therefore, a pulmonary and intestinal form of the disease is distinguished.
Modern diagnostic methods make it possible to detect cystic fibrosis in newborns using special screening tests before any symptoms appear.
- 15-20% of newborns with cystic fibrosis have meconium ileus at birth. This means that their small intestine becomes clogged with meconium, the original stool. Normally, meconium passes without any problems. But in children with cystic fibrosis, it is so dense and thick that the intestines simply cannot remove it. As a result, the intestinal loops become twisted or do not develop properly. Meconium can also block the colon, in which case the baby will not have a bowel movement for a day or two after birth.
- Parents may themselves notice some signs of cystic fibrosis in newborns. For example, when mom and dad kiss a baby, they notice that his skin tastes salty.
- The child is not gaining enough body weight.
- Jaundice may be another early sign cystic fibrosis, but this symptom is not certain, since many babies have this condition immediately after birth and usually resolve in a few days on their own or with phototherapy. It is more likely that jaundice in this case is due to genetic factors, and not to cystic fibrosis. Screening allows doctors to make an accurate diagnosis.
- The sticky mucus that is produced in this disease can cause serious damage to the lungs. Children with cystic fibrosis often develop chest infections because this thick fluid provides fertile ground for bacteria to thrive. Any child with this disease suffers from a series of severe coughs and bronchial infections. Pronounced wheezing and shortness of breath are additional problems that babies suffer from.
Although these health problems are not unique to children with cystic fibrosis and can be treated with antibiotics, the long-term consequences are serious. Ultimately, cystic fibrosis can cause so much damage to a child's lungs that they can't work properly.
- Some children with cystic fibrosis develop polyps in their nasal passages. Toddlers can have severe acute or chronic sinusitis.
- The digestive system is another area where cystic fibrosis becomes a major cause of damage. Just as sticky mucus blocks the lungs, it also causes comparable problems in various parts of the gastrointestinal system. This interferes with the smooth passage of food through the intestines and the system's ability to digest nutrients. As a result, parents may notice that their child is not gaining weight or growing normally. At the same time, the baby's stool smells bad and seems shiny due to poor digestion fat. Children (usually over four years of age) sometimes suffer from intussusception. When this happens, one part of the intestine is embedded in another. The intestine is telescopically folded into itself, like a television antenna.
- The pancreas also suffers. It often develops inflammation. This condition is known as pancreatitis.
- Frequent coughing or difficult stools sometimes cause rectal prolapse. This means that part of the rectum protrudes or comes out of the anus. Approximately 20% of children with cystic fibrosis experience this condition. In some cases, rectal prolapse is the first noticeable sign of cystic fibrosis.
Thus, if a child has cystic fibrosis, he may have the following manifestations and symptoms, which can be either mild or severe:
Diagnostics
When symptoms begin to appear, cystic fibrosis in most cases is not the doctor's first diagnosis. There are many symptoms of cystic fibrosis, and not every child has all the symptoms.
Another factor is that the disease can vary from mild to severe in different children. The age at which symptoms appear also varies. Some have cystic fibrosis diagnosed in infancy, while others are diagnosed later in life. If the course of the disease is mild, the child may not have problems until adolescence or even adulthood.
By undergoing genetic tests during pregnancy, parents can now find out if their unborn children may have cystic fibrosis. But even when genetic tests confirm the presence of cystic fibrosis, there is still no way to predict in advance whether the symptoms of the disease in a particular child will be severe or unexpressed.
Genetic testing can also be done after the baby is born. Because cystic fibrosis is a hereditary condition, your doctor may suggest testing your baby's siblings, even if they don't have any symptoms. Other family members, especially first cousins, should also be tested.
An infant is usually tested for cystic fibrosis if he is born with meconium ileus.
sweat test
Standard after birth diagnostic test for cystic fibrosis - sweat test. It is an accurate, safe and painless diagnostic method. The study uses a small electrical current to stimulate the sweat glands with the drug pilocarpine. This stimulates sweat production. Within 30 to 60 minutes, sweat is collected on filter paper or gauze and checked for chloride levels.
A child must have a sweat chloride result greater than 60 on two separate sweat tests to be diagnosed with cystic fibrosis. Normal sweat values for infants are below.
Determination of trypsinogen
The test may not be informative in newborns, as they do not produce enough sweat. In this case, another type of test may be used, such as the determination of an immunoreactive trypsinogen. In this test, blood taken 2 to 3 days after birth is analyzed for a specific protein called trypsinogen. Positive results must be confirmed by a sweat test and other tests. In addition, a small percentage of children with cystic fibrosis have normal levels of sweat chloride. They can only be diagnosed with chemical tests for the presence of the mutated gene.
Some of the other tests that can help diagnose cystic fibrosis are chest, lung function tests, and sputum analysis. They show how well the lungs, pancreas and liver are working. This helps determine the extent and severity of cystic fibrosis once it is diagnosed.
These tests include:
Treatment of cystic fibrosis in children
- Since cystic fibrosis is a genetic disease, the only way to prevent or cure it is to use genetic engineering at an early age. Ideally, gene therapy can repair or replace the defective gene. At this stage in the development of science, this method remains unrealistic.
- Another treatment option is to give a child with cystic fibrosis an active form of a protein product that is deficient or not present in the body. Unfortunately, this is also not feasible.
So at present, neither gene therapy nor any other radical treatment for cystic fibrosis is known to medicine, although drug-based approaches are being studied.
In the meantime, the best doctors can do is relieve the symptoms of cystic fibrosis or slow the progression of the disease to improve the child's quality of life. This is achieved with antibiotic therapy combined with procedures to remove thick mucus from the lungs.
Therapy is tailored to the needs of each child. For children in whom the disease is very advanced, lung transplantation may be an alternative.
Previously, cystic fibrosis was a fatal disease. Improved therapies developed over the past 20 years have increased average term life of people with cystic fibrosis up to 30 years.
Treatment of lung diseases
The most important direction in the treatment of cystic fibrosis is the fight against shortness of breath, which causes frequent lung infections. Physiotherapy, physical exercise and medications are used to relieve mucosal blockage in the airways of the lung.
These medicines include:
- bronchodilators, which widen the airways;
- mucolytics, which thin the mucus;
- decongestants, which reduce swelling in the airways;
- antibiotics to fight lung infections. They can be given orally, in aerosol form, or injected into a vein.
Treatment of digestive problems
Digestive problems in cystic fibrosis are less severe and easier to control than pulmonary problems.
A balanced, high-calorie, low-fat diet, high in protein and pancreatic enzymes, which aid digestion, is often prescribed.
Vitamin A, D, E, and K supplements are indicated to provide good food. Enemas and mucolytics are used to treat intestinal obstructions.
When you are told that a baby has cystic fibrosis, extra steps need to be taken to make sure the newborn gets the nutrients it needs and that the airways stay clear and healthy.
Feeding
To help with proper digestion, you will need to give your baby the enzyme supplements prescribed by the doctor at the beginning of each feed.
Because young children eat frequently, you should always carry enzymes and baby food with you.
Signs that a child may need enzymes or an enzyme dose adjustment include:
- inability to gain weight despite a strong appetite;
- frequent, fatty, foul-smelling stools;
- bloating or gas.
Children with cystic fibrosis need more calories than other children in their age group. The amount of extra calories they need will vary depending on each infant's lung function, level physical activity and severity of the disease.
A child's calorie requirement may be even higher when they are sick. Even a mild infection can significantly increase calories.
Cystic fibrosis also disrupts the normal function of the cells that make up the skin's sweat glands. As a result, babies lose large amounts of salt when they sweat, leading to a high risk of dehydration. Any additional salt intake should be dosed according to the recommendation of a specialist.
Education and development
It can be expected that the child will develop in accordance with the norm. When in Kindergarten or school, he may receive an individual education plan under the Persons with Disabilities Education Act.
An individualized plan ensures that the child can continue their education if they become ill or are hospitalized, and includes the necessary arrangements for attendance. educational institution(for example, providing extra time for a snack).
Many children with cystic fibrosis continue to enjoy their childhood and grow up to lead fulfilling lives. When a child grows up, he may need many medical procedures and from time to time go to the hospital.
The child should be encouraged to be as active as possible. Your child may need extra help from their parents to adjust to school and everyday life. The transition from childhood to adulthood can also be challenging, as the child must learn to manage cystic fibrosis on their own.
Above all, children with cystic fibrosis and their families must maintain a positive attitude. Scientists continue to make significant advances in understanding the genetic and physiological abnormalities in cystic fibrosis, and in developing new treatment approaches such as gene therapy. The prospect for further improvement in the care of patients with cystic fibrosis and even for the discovery of a cure is there!