Cystic fibrosis in children: symptoms and treatment, life expectancy

How to treat cystic fibrosis in children?

Cystic fibrosis of the pancreas refers to monogenic hereditary diseases, which is characterized by autosomal recessive inheritance. In Russia the diagnosis is confirmed 300 children annually.

The symptoms and treatment of cystic fibrosis in children differ. The area of lesion of the exocrine glands, the age of the child – factors that influence the symptomatic picture and the scheme of therapy. Timely diagnosis and therapeutic procedures can prevent complications and prolong patient’s life.

The pathogenesis of the disease

Shoulder q 7 human chromosome contains transmembrane conductance regulator cystic fibrosis (MVTR). This gene encodes a protein involved in the transport of chloride ions across the plasma membrane. The mechanism of formation and release by cells of secret controls of MVTR. During normal operation, a gene in the body receives the required amount of salt and water.

Structural changes in transmembrane conductance regulator of cystic fibrosis lead to Multisystem disease – fibrosis of the pancreas, which is characterized by thickening and stagnation of fluids produced by cells of the exocrine glands.

The body is overly saturated with salts, the water supplied is of insufficient quantity, thereby changing the biological composition of mucus. Affected digestive (primarily the pancreas), respiratory, reproductive system. In most cases the causes of mutations to genes remain unclear.

Due to changes in the composition produced by the secret, it becomes impossible to unhindered outflow of fluid, which leads to the growth of pathological microflora and chronic infectious process. Stagnant fluid causes destabilization of the bodies. These processes reduce life expectancy, lead to disability.

For reference! The disease equally affects both boys and girls. Children are born patients to be infected with MV impossible. Symptomatic picture in 70% manifested in the first year of life, 4% may be diagnosed in adulthood. Known rare cases when the disease is manifested in the first days of a baby’s life.

Thanks to the advanced medicine, the life expectancy of children with cystic fibrosis has increased to 50-60 years, when previously did not exceed 25-35. Timely diagnosis, clinical supervision, ongoing therapeutic measures, drug therapy – factors that increase the duration of a child’s life, stabilizing his condition.

Could it be the child will have cystic fibrosis if the parents are healthy, but are carriers of CF? In this case the answer is positive, since MVTR is a recessive gene and can lie dormant for many generations until the two identical gene MVTR will not occur in both parents.

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If a carrier of the mutated gene acts as one of the parents, illness in a child does not develop (inherits only one copy of a gene). But the child becomes a carrier of CF, which can pass to their offspring.

For reference! About 10 million people are carriers of the defective gene. These people are healthy, no symptomatic picture, so before the birth of the child may be unaware of the presence of a mutated gene. When you inherit two copies of the gene (from mom and dad) chance of having an affected child is equal 1 to 4.

Clinical manifestations of the disease

Among patients with cystic fibrosis in 85-90% of cases are diagnosed violation of exocrine pancreatic secretion with a simultaneous lesion of the glands of the bronchopulmonary system. The symptomatic picture can manifest different symptoms as the disease to a greater or lesser extent affects all the glands of external secretion of the person.

Therefore, the presence of uncharacteristic each other symptoms – dyspnea, diarrhea, weight loss, systematic non-productive cough, etc. should be Wake-up call for parents. Symptoms, treatment and prognosis of the disease depends on the clinical forms of CF.

Cystic fibrosis in newborns symptoms

Obstruction of the original feces (meconium) is one of the signs of hereditary disease, occurs in 15-20% of newborns diagnosed with cystic fibrosis.

Medicine defines this pathology as «mechanically ileus», which is accompanied by concomitant symptoms as:

  • pallor of the skin;
  • lethargy and refusal of food;
  • retching bile;
  • increase in body temperature;
  • flatulence.

Obstruction caused by meconium stagnation, due to thickening of secretions of exocrine glands. To determine the pathological state can by their appearance:

  • on palpation of the abdomen, the child begins to cry nature (feels tight bloated intestinal wall at the site of accumulation of meconium);
  • when examining a toddler a visible seal and the contour of the colon;
  • for a long time is no defecation and discharge of gases;
  • the slightest movement cause the child pain, so he for a long time can remain stationary.

Late diagnosis of obstruction can lead to rupture of the bowel and inflammation of the peritoneum. Increases the concentration of biologically active substances of microbial origin that threatens death.

For reference! Meconium in a healthy condition baby has a viscous, oily consistency, no smell, yellow brown color. When meconial obstruction stools may be blood, abnormally dense consistency of secretions.

Among the independent characteristics of MV in neonates is to provide:

  • visible yellowing of the skin;
  • the baby’s skin acquires a salty taste;
  • the child is not gaining weight adequately.
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Disease symptoms in infants

Cystic fibrosis in infants is manifested mild clinical picture at 5-7 month of life, which can lead to late diagnosis of the disease.

The characteristic features of MV include simultaneous weight loss, disorders of stool and respiratory tract.

Symptoms of disease in infants can be divided:

  • On signs of violation of the digestive system. Manifested in the form of a yellow foul-smelling stool, thick and greasy consistency, rectal prolapse, bloating.
  • On the respiratory symptoms – paroxysmal, persistent cough unproductive nature, worse during the night. Cough syndrome may be accompanied by dyspnea, which promotes mucous plug, clogging the Airways.

Important! In most cases, the first symptom of CF in infants may be frequent bronchitis, pharyngitis, rhinitis, which soon resumed after the end of therapies.

Without proper treatment, the clinical picture will be chronic with a relapsing course of the disease.

Symptoms in children of preschool and school age

Pathology develops as a child gets older, and is supplemented with the following clinical manifestations:

  • From the digestive system: in rare cases, developing diabetes, liver failure. Often accompanied by anomalies of physical development, chronic diarrhea, rectal prolapse, partial twisting of the intestine (intussusception), inflammation of the pancreas.
  • The respiratory system: nonproductive (dry) cough with occasional blood or purulent exudate, chronic shortness of breath, systemic respiratory disease (no clear etiology), and bronchiectasis.
  • Other: abnormal enlargement of the liver, a rare variant of the dehydration – hypotonic degarcia, growth retardation, infertility in boys, «drum dactylitis» (the fingers resemble drumsticks because of the swelling of the distal phalanges).

For reference! As the diagnosis of MV acts as a sweat test (not carried out in the first week of life a newborn), the test for insufficiency of the pancreas, a genetic study. To assess the condition of the patient assigned to the biochemical analysis of blood, clinical analysis of feces, analysis of bronchial secretions, bronchoscopy, ultrasound, CT, x-ray radiation.

Therapeutic measures in MV

Because cystic fibrosis is an incurable disease, the primary goal of treatment is to improve quality of life of the patient, preventing complications and restoring the digestive and respiratory systems, as these systems suffer a considerable burden with the disease.

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Therapeutic measures must be comprehensive, to include medication, treatments aimed at strengthening the body, restoring nutrient deficiencies. Ill MV life must take maintenance drugs, and stand on the account in medical institutions.

The most important issue in therapy is adherence to the therapeutic diet. For infants optimum food is maternal milk that for medical reasons can be replaced by adapted milk mixtures.

For older children, a necessary condition is the availability of high-calorie foods, vitamin complexes (A , D, E, K ), the protein products in the daily diet. Daily caloric needs to exceed the normal rate according to the age of the child at 120-150%.

To compensate for the lack of digestive enzymes in the body will allow reception from an early age to drugs «CREON», «Panzinorm». The daily rate is determined based on the individual patient.

If the damage of the respiratory system drug therapy is prescribed:

  • Drugs with antibacterial activity for suppressing the disease, the death of anaerobic microorganisms (infectious or inhalation). The severity of symptoms, age of the patient determines the need for individual identification means.
  • Mucolytic agent to reduce the viscosity of the mucus («Pulmozyme», «Ambroxol», «Amiloride»). Used as a inhalation.
  • Bronchodilators, relieving bronchospasm («Flomax», «Fenoterol»).

For a more rapid elimination of inflammation assigned to glucocorticoids, NSAIDs, anticytokine.
To alleviate the patient’s condition, you can use the daily breathing exercises, kinesiotherapy, which helps to cleanse the respiratory tract from accumulation of mucus.

Conclusion

With timely diagnosis and adequate therapy, the patient MV can live up to 45 years. Thanks to medical advances the quality of life of patients and duration increased. The indicators of early fatalities decreased by almost two times.