19 November 2013

Heavy lungs

Cystic fibrosis – causes, treatment, prospects

Nika Batchen, KM.RU

Even children know about some diseases – who will not name the symptoms of flu or sore throat? Experienced practitioners have not heard about others either – there are only a few hundred cases of progeria (premature aging), epidermolysis bullosa ("butterfly syndrome" or fragile skin) or hypertrichosis (increased hairiness) in the world. Cystic fibrosis, also known as cystic fibrosis, also refers to rare diseases. What is this insidious disease?

Chromosome "breakdown"The word cystic fibrosis comes from the Latin words mucus – "mucus" and viscidus – "viscous".

The main symptom of cystic fibrosis is the viscosity of secretions, mucus secreted by the body. It would seem that there is nothing terrible here? But all hollow organs are covered with mucus, which moistens the surface and is regularly separated, cleaning it. If the mucus becomes viscous, it stagnates, bacteria multiply in it, providing constant infection. If too much mucus accumulates, it can clog the intestines, cause pneumonia. Food is poorly absorbed, oxygen is not supplied enough, so the sick child is weakened, his physical development is greatly delayed. The lungs, intestines, pancreas suffer from the disease, and subsequently liver, kidney, and heart lesions join.

The cause of the disease is in the "breakdown" of the chromosome. With cystic fibrosis, the long arm of the 7th chromosome is damaged. The defect is inherited, so that the child gets sick, both parents must be carriers of the pathological gene – then the probability of the disease is 25%. Therefore, if one of the relatives suffered from cystic fibrosis, the spouses need to undergo a genetic test before conception. In Europe, the incidence of the disease is 1: 2500, in Russia 1:10000, in Africa and Asia there are almost no carriers of the pathological gene.

In the presence of modern equipment, the diagnosis is easy enough to establish – you need a sweat test for the content of sodium and chlorine in the sweat of a child, a coprogram that detects neutral fat in the feces and an analysis for the presence of albumin (a simple water-soluble protein) in the feces. Molecular genetic testing is required for confirmation.

It is necessary to insist on examination for cystic fibrosis if the child has the following symptoms (two or more):

  • Constant pneumonia, pneumonia, bronchitis, flowing from one to another, with little effectiveness of antibiotics, cough that does not go away for years.
  • Constant constipation, bloating, abdominal pain, poor appetite, poor digestibility of any food, polyphalia (unusually copious bowel movements).
  • The formation of fingers in the form of so–called drumsticks, nails - in the form of watch glasses, constant shortness of breath, including at rest with a healthy heart.
  • Physical weakness, thinness, short stature, puffiness, pallor, lack of mobility, noticeable lag in physical development with normal or slightly accelerated mental.

Heavy lungsThere are three forms of the disease.

Pulmonary. There is clogging, and subsequently blockage of the bronchi with a viscous pulmonary secret. Intrapulmonary abscesses occur, stagnant mucus quickly becomes a breeding ground for pathogenic bacteria, especially Staphylococcus aureus. Gradually, the lung tissue becomes sclerosed, i.e. it becomes hard, cysts appear – therefore, the second name of the disease adopted in the USA is cystic fibrosis. Over the years, the lungs work worse and worse, heart failure joins and the patient dies from suffocation.

Intestinal. The digestive tract suffers first of all. Newborns often have intestinal blockage with meconium (primordial feces). Due to the viscosity of the secret, digestion and assimilation of food is disrupted, proteins and carbohydrates are especially poorly absorbed, and fat is excreted with feces. Because of the viscous saliva, the patient does not eat dry food well, he needs to drink a lot. In the future, ulcerative colitis, intestinal obstruction, cirrhosis of the liver, diabetes mellitus, urolithiasis develops.

The mixed form, the most severe, combines the symptoms of the first two – the child's lungs and intestines are affected. As a rule, it occurs at a fairly early age, weighing down the prognosis – the later signs of cystic fibrosis appear, the longer the patient lives and the better he feels.

With an uncomplicated course of the disease and a healthy lifestyle, doctors give the patient an average of 30 years of life after the appearance of the first symptoms. But, alas, it is impossible to predict at what rate complications will arise.

Hope dies lastHalf a century ago, children with cystic fibrosis were doomed.

In particular, this is why Russian patients in the XXI century had problems with treatment – our doctors had no experience in managing adolescents and adult patients with such a disease, because people with this diagnosis did not live to adulthood. Now everything has changed. In the USA, the average life span of a patient with cystic fibrosis of the lungs is more than 40 years and this figure is growing, the oldest patient celebrated his 70th birthday. In Russia, alas, a patient with cystic fibrosis lives about 25-30 years… But there are happy exceptions. These people do not consider themselves disabled, they study, get professions, work, play sports, music and dance, create families, give birth to children. Between periods of exacerbation, their life is no different from the life of healthy peers.

A radical method of treating cystic fibrosis is lung transplantation. It allows you to improve the patient's condition for a significant period of time. And neither the risk of transplant rejection nor the inevitable complications from drugs that depress the immune system do not stop people who dream of being able to breathe deeply, without apparatuses and masks. Unfortunately, at the moment, lung transplantation in children is not possible in Russia, and an adult should be in relatively tolerable physical shape. Therefore, most transplants are carried out abroad.

Today's children, who were diagnosed in infancy, have a chance to wait for the "repair" of damaged genes and a full recovery. Developments on the gene therapy of cystic fibrosis are already underway in the USA. But it is still necessary to live up to new medicines – therefore, the patient must constantly be under the supervision of specialists, follow all prescriptions exactly, undergo physiotherapy, do gymnastics and restorative procedures, and eat well. Modern treatment can significantly prolong the life of a person with cystic fibrosis and make it complete. If the family does not have enough funds for treatment, there are special funds where you can apply for help.

Gregory Lemarchal and othersThere are surprisingly many talented musicians and singers among patients with cystic fibrosis.

Doctors have a suspicion that the great composer Frederic Chopin suffered from this ailment in a relatively mild form.

Cystic fibrosis was diagnosed in early childhood by Gregory Lemarchal, a famous French singer who released a platinum disc. As a boy, he dreamed of becoming an athlete, chance brought him to the participants of the French talent show, where the unique voice of the young singer drew attention. In a matter of months, Lemarchal gained national popularity. He performed at the Olympia, toured Europe, the total circulation of his cds exceeded one million. Unfortunately, the disease took over and Lemarchal died at the age of 23, not having time to wait for a lung transplant.

The Englishwoman Alice Martineau was not so popular, but in London she was loved and known. The singer performed a lot, went on tour. She not only sang, but also accompanied herself on the piano, played along on the flute. Martino managed to release her first CD, a documentary was made about her achievements on the BBC. However, she also did not wait for the transplant and died at home at the age of 30.

American Bob Flanagan was a rather peculiar artist, comic actor, poet and musician, who put shocking antics in the spirit of sado-masochism at the forefront. He gained popularity thanks to specific clips in which he is torn to pieces, nails are driven into his body, etc. He was happily married, lived for 43 years – more than many quite healthy rock figures and artists with similar dubious predilections.

Nowadays, more and more patients with cystic fibrosis are not only not shy about their illness, but also openly share their experiences, ways to overcome suffering and find meaning in life. If someone from your loved ones has been diagnosed with this unpleasant diagnosis, it is not difficult to find a support group on the Internet to cope with the inevitable difficulties and motivate yourself to win!

Portal "Eternal youth" http://vechnayamolodost.ru19.11.2013

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