However, not all children born to foster parents will have the disease. When both parents are carriers, the probability that each child is not a carrier and does not have cystic fibrosis is 25%, the probability that they are carriers is 50% but without cystic fibrosis and 25% have cystic fibrosis. As genetic testing becomes more affordable and the rate of healthy carriers of fibrosis is 1 in 50, it is recommended that all people be tested for carriers.
People who know their relatives have had cystic fibrosis are advised to get tested if they want to become parents. Sibling screening is also recommended when detecting a person with cystic fibrosis, as early detection of the disease leads to treatment options, improved quality of life and longer survival.
Cystic fibrosis (or Anglo-Saxon cystic fibrosis)
Even second-degree relatives, such as primary Cousins, should be examined after genetic consultation and a family tree. People with mutated genes who do not want to have a child with this disease may consider in vitro fertilization with a preimplantation diagnosis, as the embryo can be tested before implanting into the mother’s uterus. Cystic fibrosis (or Anglo-Saxon cystic fibrosis) is the most common monogenetic disease with autosomal recessive transmission, due to defects in the CFTR gene that encodes chlorine channel proteins in the epithelial cell membrane.
Characterization:- diagnosis is usually made in childhood- the incidence of the disease is estimated at 1/2500 newborns- In Romania, the incidence of this disease is around 1.5 cases per 100,000 inhabitants- the frequency of gene carriers (heterozygotes) ranges from 1 to 25evolution chronic, severe due to respiratory, digestive and metabolic complications, potentially fatal at a young ageSymptoms of the disease are due to changes in the function of different organs.
Pulmonary symptoms consist of the appearance of bronchiectasis colonized by pathogens: Staphylococcus aureus, Haemophilus influenzae, Pseudomonas Aeruginosa, with the assumption of chronic obstructive and chronic respiratory failure requiring: bacteriological monitoring of the patient (checks at frequent intervals of 1-3 months))pulmonary mucus viscosity reducing agents (Daily administration of Pulmozyme aerosols, hypertonic salt solutions)tapotament / phyozioterapiestimulation of coughing antibiotic aerosols to treat chronic bacterial colonizationlong-term oxygen therapy.
Gastrointestinal symptoms include: pancreatic duct obstruction – exocrine pancreatic insufficiency (malabsorption by digestive disorders, hepatic duct obstruction – prolonged jaundice, cholestatic), chronic hepatic dysfunction( contributing to lipid malabsorption), gastroesophageal reflux (often associated with) daily, lifetime treatment with synthetic pancreatic enzymes (Creon), dietary and complementary manipulation of fat-soluble vitamins and nutritional concentrates.
Damage to organs with duct / duct structures
Damage to organs with duct / duct structures : Female and male infertility Chronic otitis Chronic sinusitis – formation of polyps with destruction of facial massHydroelectricity imbalance – loss of Cl, Na and water in sweat, which can lead to hypovolemic shock and severe hyponatremic dehydration Although cystic fibrosis is usually diagnosed in childhood, in recent years there has been an increasing number of cases diagnosed in adulthood. Many cystic fibrosis patients also reach adulthood and require long-term care.
SITUATION OF ADULT PATIENTS WITH CYSTIC FIBROSIS IN ROMANIABased on data from the National cystic fibrosis patient register , 63 adult patients (over 18 years old) with cystic fibrosis were registered in Romania, Some diagnosed in adulthood, others diagnosed in childhood who survived to adulthood.
- A total of 24 cystic fibrosis patients are currently aged between 16 and 18 and they will also be registered for adult benefits over the next two years.Patients with cystic fibrosis need specialized care because in addition to chronic respiratory symptoms they may have digestive problems, diabetes, psychological problems and social integration;
- Centers with specialized medical staff (doctors, nurses, dieticians, physiotherapists, psychologists, social workers) are dedicated all over the world.Full name (sub) of the programme: National cystic fibrosis Program (children and adults)) Inclusion in the National Health Programs of the Ministry of Health (with the normative acts)).
Adult patients with cystic fibrosis currently benefit from the National Cystic Fibrosis programme (children and adults) contained in the Chapter “National Health Programmes for Non – Communicable Diseases” Section 8 – “National Programme for the diagnosis and treatment of Rare Diseases”. As beneficiaries of this program, adult patients with cystic fibrosis may receive free prescriptions for medicines listed on CNAS C2 in Chapter P6.4: Cystic Fibrosis. However , these patients are not yet integrated into a single system of care, as there is no functional way to transfer these patients from paediatric wards to adult wards or wards or wards that specialise in the care of such patients.
However , these patients are not yet integrated
Organization, structure, personnel:The nationwide cystic fibrosis Program is run mainly by pediatric departments, there is a well-organized network for the treatment of children suffering from the disease. The diagnosis and treatment of adult patients with cystic fibrosis is still very difficult , the network of wards dedicated to treating these patients is not fully functional, many patients use paediatric wards even after they reach adulthood.
Pneumophysiologii im. Marius Nasta is a reference Center for the treatment of adult patients with cystic fibrosis, where 16 of the 63 adult patients known to suffer from the disease are observed.In order to increase access and quality of medical services for patients across the country, the pulmonology Commission has repeatedly proposed the creation of four Centers for monitoring and treating cystic fibrosis patients that would operate in: Marius National Institute of Pneumoftiziology, Bucharest Pneumophysiological hospital in Cluj Napoca Hospital Iasi PneumoftiziologyVictor Babes Infectious Diseases and Pneumoftiziology Hospital, TimisoaraTo date, the operation of these centres has not been approved and funded by the Ministry of Health.
Purpose, reason:- Prolonged survival and improved quality of life in adult patients with cystic fibrosis Strategic objectives: Developing a system of care for adult cystic fibrosis patients. Determination of adult cystic fibrosis network structure and attributes3 . Diagnosis of multiple cystic fibrosis patients in adulthood 4 . Define a system of cooperation between designated treatment centres for adult cystic fibrosis patients, paediatric wards and other specialities involved5 . Determination of the incidence of adult cystic fibrosisclasses.