Mucoviscidosis (cystic fibrosis, CF) is the commonest genetic disease. The cause of cystic fibrosis is a mutation of CFTR (cystic fibrosis transmembrane conductance rebulator) gene that is responsible for transport of negatively charged particles called chloride ions into and out of cells. CF gene is situated on a long arm of the 7th chromosome. Tere are many variations of a mutated CF gene. In 1995 CFGAC Institute listed over 1000 mutations. The commonest one is delta mutation F 508; probably, it is responsible for pancreatic insufficiency. Patient?s body products too sticky and thick mucus which disturbs mucous glands (especially in respiratory, digestive and reproductive systems). Sweat glands produce gland with too much salt in it (so called ?Salty sweat?). According to the latest research, every 25th person in the world is a carrier of a mutated CF gene.

Symptoms

Respiratory symptoms (in 90% of patients)

• thick and sticky mucus which collects in the small airways of the lungs and bronchial tubes and allows bacteria to develop.
• coughing, the involuntary reflex to forcefully expire the mucus buildup from ones lungs and bronchial tubes.
• recurrent respiratory and lungs infections that are very difficult to cure, may lead to change in the architecture of respiratory system
• recurring sinusitis with nasal polyps (especially in children and adults)

Digestive-related symptoms (in 75% of patients)

• thick and sticky mucus clogs a pancreatic duct and, therefore, food cannot be digested and absorbed correctly
• bulky, foul-smelling, oily stools(especially in infants)
• stomach pain and discomfort caused by too much gas in patient?s intestine, rectum fallout
• episodes of intestinal blockage, especially in newborns.

Other symptoms:

• delayed growth (failure to thrive, weight loss)
• retarded muscles development (loss of buttocks)
• exessive fatigue (quick tiredness)

Diagnosing cystic fibrosis

All the symptoms listed above should be an indication for a sweat test in a laboratory. A digital chloridometer is used to measure the concentration of chloride ions in the fluid. If more than 60 mmol/liter is detected, cystic fibrosis is diagnosed. However, if a person tests positive for cystic fibrosis, a repeat of the sweat test should be performed to confirm the diagnosis

Treatment
Treatment of lungs and bronchial tubes diseases in cystic fibrosis is based on:

• removal of sticky and thick mucus from patient?s airways
• management are proactive treatment of airway infection using antibiotics

The treatment for cystic fibrosis continues throughout a patient's life, and is aimed at maximizing organ function, and therefore quality of life. At best, current treatments delay the decline in organ function. Treatment typically occurs at specialist multidisciplinary centers, and is tailored to the individual, because of the wide variation in disease symptoms. Antibiotics are given whenever pneumonia is suspected or there has been a decline in lung function. Comprehensive treatment in connection with physical therapy may moderate irreversible changes in lungs and bronchial tubes.

Day nursery, kindergarten, school

Children sick with cystic fibrosis should not attend day nursery. Majority of kids should not attend kindergarten as well. Depending on health state of a child, He or she should consider starting home learning. Choice of one?s occupation should be consulted with a doctor.

Present knowledge about causes of the illness

Since 1989 there has been a huge progress in modern technologies concerning cystic fibrosis. Scientific research which is done on a large scale all around the world let us hope that we will be able to cure causes of the disease not the symptoms. There are three main streams of development:

• molecular (genetic) diagnostics
• lungs transplantation
• UTP monotherapy or UTP plus amiloride

New ways of treatment

Contemporary medicine starts to understand the sickness and has already discovered its roots. That is why, it enables doctors to treat their patients using very innovative and effective methods.

• liposome inhalation therapy ? aimd to liquid the mucus in order to remove it from patients body;
• inhalations antiprotease, attenuate airways inflammation;
• inhalations(UTP) mediated by stimulation of ciliary motility of airway epithelium , Cl and water transport across airway mucosa toward the lumen;
• usage of cytokines to reduce inflammatory condition;
• immunoglobulines against very dangerous bacteria, Pseudomonas aeuroginosa;
• anti-Pseudomonas aeruginosa vaccinations,
• gene therapy that is based on inserting the right part of CFTR gene into respiratory epithelium; for three years this method has been under clinical tests.

How do we inherit cystic fibrosis?

Cystic fibrosis is hereditary disease of mutation on the 7th chromosome. This gene is a fragment of a chromosome that is responsible for entity?s hair and eyes color, height etc. and certain diseases. A chromosome consists of two parts (alle), which are copies of information inherited from mother and father. The disease appears to be inherited in a highly penetrant autosomal recessive manner, what is more, the disease may happen to kids of both sexes. Recessive inheritance means that for a disease to be present a child has to inherit two parts of mutated 7th chromosome from both parents (such person is called a homozygote). If a gene Has only one part mutated then a person is not sick with cystic fibrosis but is a carrier of this disease (such person is called a heterozygote). 25 per cent of Caucasian people carries at least one of the fatal defective genes that cause cystic fibrosis.

Will children of both parents being CF gene carriers surely sick?

Case 1. If both parents are carriers than their child will have a 25% of having CF, a 50% chance of being a carrier and a 25% chance of not being affected. (pic. 1.).
Case 2. If one parent is a carrier and the other is not a carrier that there is 50% Chance of having a health child and 50% of having a carrier. Case 3. If one parent has CF and the other one is not a carrier than there is a 100% chance that their child will be a carrier, what is more, none of their children will be sick with cystic fibrosis (pic. 2.)
Case 4. If one parent has CF and the other is a carrier than the child has a 50% chance of having CF and a 50% chance of just being a carrier. (pic. 3)

These are only statistical calculations based on heredity rules and they only show probability of becoming sick. It does not determine, that a child is going to be healthy or sick as the chart may suggest.

98% of men sick with cystic fibrosis are infertile, however one should not be sure of the infertility. Some women have fertility difficulties due to thickened cervical mucus or malnutrition. In severe cases, malnutrition disrupts ovulation and causes amenorrhea. Both sexes? sex hormones and sexual needs are normal and unchanged, although, sexual development might be slightly retarded.

This part was prepared on the basis of an article titled: Medical Information: An Introduction to Cystic Fibrosis For Patients and Families issued by Cystic Fibrosis Foundation.

Frequently asked questions about mucoviscidosis