Scientific Name for Cystic Fibrosis

SALTY CHILDREN

Contemporary scientific knowledges about cystic fibrosis and direction its research.

Reason of existence salty children is affection, which name is cystic fibrosis. It's relevant affection, which belong to the most frequent genetic defects with fatal end. This genetic defect - mutation - is more than 50 000 years old and occurred by primary inhabitants the Europe at that time. Therefore is a sign of our original European family. But either North America isn't behind in occurrence of this affection. .

Cystic fibrosis (CF) is in some populations more frequent, in other it occurres on the contrary isolated. E. g. in USA is affection with cystic fibrosis in proportion 1 : 2 000 childbirths by white. By Negro inhabitants in the same state is substancialy more rarely - 1 : 19 000 and at least probably is by people of Asiatic origin - 1 : 90 000 childbirths. For Europe is showing a proportion 1 : 2 000 - 1 : 4 000. In Czech Republic is occurrence of CF in proportion 1 : 2 000 till 2 500, in Slovak Republic is 1 : 3 000. Carrier of this gene in our country is in average every 22. man, what in Slovakia presenting about 250 000 people, what means 17 - 20 children borned with this affection yearly.
It means, that every 400. marriage in our country is marriage of two really carriers of affection, what's connected with risk of siring stricken child. To birth of child with cystic fibrosis must be both parents carriers of mutationed gene for CF. They don't know about they can to sire child with such a relevant affection, because they haven't any symptoms of this illness, they are wholly healthy people. It's due to recessive heredity. Probability, that will born stricken child in this couple is in proportion 1 : 3. However in practice is risk 25 per cents alarming high.

Eighthundred and fifty mutations

Gene for CF was located at long arm of chromosome 7 in the year 1989 when its first insulation and cloning was realized. Till now are well-known 850 mutations of various types. This mutations shows themselves with various range of damage the individual. It depend on that, if stricken person have this protein defective or is it fully absent to them. Product of gene is indicating like CF transmembrane conductance regulator - CFTR. The single gene's name is CFTR-gene. CFTR protein regulate the motion of ions of chlorine through plasmatic diaphragm (chloride channels). If CFTR have influence also at functions the other ion's channels is researching intense at present. It eligible calcium dependent chloride channels. Because liquids move through cytoplasmatic diaphragm like reaction to motion of ions, defective albumen cause, that plenty liquids are not adding to secretion of glands and it remain dense. Just this fact cause problems in function of single organs.

High concentration in perspiration

Why we talk about salty children then? This name has its basis in high concentration of electrolytes in perspiration the stricken man (respectively child, for this illness require itself a life often before than individual will grow up). Perspiration contain a lot of sodium - more than 70 mmol/l and concentration of chloride is more than 60 mmol/l, what's about 5 - 6 times more than healthy people have. Though present-day medicine (in cooperation with molecular biology and genetics) make progress in this area, in spite of timely diagnostic and following cure they tell about possible age of patient's living 20 years. That's why this illness influence a life of children and all it's family negative. In complete form is causing life-long earnest problems.

Classical symptom - the cough

To classical symptoms belong excitable till attacking cough, sometimes dry, but mostly productive with expectoration septic phlegm. Almost all patients suffer from chronic inflammation of forehead cavities, nasal mucuous membrane and repeatedly creation of nasal polypuses. Symptoms can be similar like near bronchial asthma, some patients can have also alergic affection (asthma, eczema) at the same time. CF can be the reason of repeated pneumothorax ("breaking" of lungs). In air passages at CF is creating phlegm, which is breaking self-cleaning ability of lungs and expectorate heavily. At the wall of windpipes adherent, standing phlegm is a good nutritive land for bacteria, what's causing chronic inflammation of windpipes and pneumonia. Plugging of windpipes with phlegm leading to unairy of some lungs's parts and creation the cavities filled in with phlegm and pus (cysts - cystic fibrosis). Lungs's affection often shows itself at the shape of thorax which evoke barrel.
From chronic affection of air passages suffer 85 - 100 per cents of patients. Thick phlegm created in air passages block their function, chronic obstructive illness of lungs is developing, when are creating good conditions for bacterial infections, which most frequently going to kill the patient. This problem is also limited factor a length of life. But the biggest curative progress was reached just in cure of air passages. Patient with CF has to inhale several times daily medicines and antibiotics. To perfect removal of phlegms is necessary intense rehabilitation of respiration Patient with CF spends two - five hours daily with "washing" of air passages . Inevitable is own inhaler ("chemical cleaning" of air passages) and flutter ("mechanical cleaning"), to minimalization possibility of transfer the infection. Very useful for it is regular sport (skating, cycling, training on trampolin, swimming) not only like a part of rehabilitation but to improvement total physical and breathing condition, too. Also blowing toys and musical instruments (whistles, mouth-organs, flute) are very well-established.

It harms all besides intellect

CF gradually going to harm all organism. Only what it doesn't influence to is intellect. But these children are a little efficient in condition, easy tired, what markedly separate them from schoolmates. That's why whould them grant advantages at school, especially with regard to obligatory training during gymnastics. But sport for these children isn't necessary expel, because it help them to keep the lungs's capacity in suitable condition. Besides these demonstrations also cough makes harder life in school for children with CF. They don't recommend to notice it in order to child wasn't ashamed for it and in any case it can't them to forbid cough. It could run to their death, in worst case.
Mutate gene affects function of endocrinous glands, which produce phlegm (mucus), digestive enzymes and perspiration. Because function of sweat glands is defective, they in their product - perspiration - produce excessive quantity of salt. That's why is illness often diagnose throug analysis the quantity of salt in perspiration. But it's not only about its increase. In every cells fades salt without control into a body liquids. So improverished cells are not able to create good-quality products - albumens. Illness has far-reaching influence also to the rest glands with external sekretion, which fill important functions in organism. It produces thick phlegm in pancreas's ducts, the blocks discharge of digestive enzymes to thin intestine, owing to is defect of digestion and following low weight of stricken despite of big receipt of food. In pancreas are creating cysts and finally organ will degenerate to form of fibroid mass - from where the illness also obtains its name. It's damaging function of liver, too. Till 85 per cents of patients with CF suffer from problems of digestion. Individuals often go to stool, which produce in excessive quantity. Many of stricken individuals are sterile, because phlegm blocks their reproductive channels. From that then results, that every children stricken with cystic fibrosis are descendants of healthy or only little stricken parents.

Necessity of preventive examination

Preventive genetic examination is recommended to partners which descend from families, where was CF already appeared. Easy form of cystic fibrosis or its carrier is often connected with defect of fertility by man for lowering of number seeds. If a man hasn't any seeds owing to blockage of seed tubes, what often happens in direct continuity with cystic fibrosis, genetic examination is compulsory, to elimination this alternative. If a man has expressively lower number of seeds, it can be in continuity with presented affection, therefore examination at carrier cystic fibrosis is only recommended and isn't compulsory. Examination alone is then in form of sampling of blood, which is sending to specialized genetic working-place, which delivers result in 72 hours.
By suspicion, that child has CF, diagnosis is exerting like this: first they makes perspiratory test (determination the contrentation of salt in perspiration), which is exerting in CF's centres. Diagnosis is confirming with proof of presence the mutations in gene for CF.
Cure of CF means permanent substitute pancreatic enzymes and high caloric nourishment. These patients must have caloric receipt 50 per cents higher than their healthy contemporaries. With permanent and complicated cure, keeping everyday rehabilitation, various supplemental forms of cure to a certain extant improve the quality of life and table to life of society.

Investigation two types of cure

Research in this sphere goes in different directions to find something what should effectively help patients with cystic fibrosis. After testing at mice now are making several clinical tests of gene therapeutics CF. In research was used two types of cure. Gene CFTR they insert to cells epithelium lungs's fabrics.
In first type of cure the therapy reside in that gene CFTR in adenovirus vector is dispersing to epithelium upper air passages. Results were encourgely only partly and a lot of clinic doctors warn before this access. Therefore the better vectors are creating.
In second type of cure is used fact, that cell's diaphragm is negative live and that's why positive live liposomes making easy penetration of DNA to cell. Advantage of using liposomes is less undesirable adjoining effects, disadvantage is smaller efficiency of DNA transmission. Also in this case is still working at optimalization of system. It's considering about other methods of genes transmission, too.

Reason unknown

Till now scientist didn't agree about why are CFTR changes in european population so wide-spread. In Europe is bearer of mutation causing CF every 23. - 32. person. One of discussed reasons is convenience heterozygots (bearers of gene, who are clinic healthy). By cystic fibrosis it's considering about that heterozygots could have increase resist against cholera and bronchial asthma, but this theories aren't accepted in general. Similar situation is by anemia, where heterozygots are sturdy against malaria due to protozoons Plasmodium falciparum.

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