PRESENTED BY: A.PRIYADHARSHINI M.Sc(N), LECTURER,JAI INSTITUTE OF NURSING AND RESEARCH, GWALIOR.
It is an autosomal recessive geneticdisorder that affects most criticallythe lungs, and also the pancreas, liver,and intestine. It is characterized byabnormal transportof chloride and sodium across an epithelium,leading to thick, viscous secretions
It is most common in causcasians with an incidence of 1 in 2500 children born in the U.K. It is extremely rare in India. The incidence in migrant Indian populations in the UK and USA has been estimated to be 1 in 1000 population. Cystic fibrosis is diagnosed in males and females equally.
The basic defect in CF is a mutation in the gene for chloride conductance channel i.e. cystic fibrosis transmembrane conductance regulator (CFTR). The failure of chloride conductance by epithelial cells leads to dehydration of secretions that are too viscid and difficult to clear.
Salty tasting skin Poor growth Poor weight gain despite a normal food intake Accumulation of thick, sticky mucus Frequent chest infections Coughing Shortness of breath Males can be infertile due to congenital absence of the vas deferens
Symptoms often appear in infancy and childhood, such as bowel obstruction due to meconium ileus in newborn babies. In rare cases, cystic fibrosis can manifest itself as a coagulation disorder.Young children are especially sensitive to vitamin K malabsorptive disorders because only a very small amount of vitamin K crosses the placenta, leaving the child with very low reserves.
The newborn screen initially measures for raised blood concentration of immunoreactive trypsinogen.
Sweat-testing involves application of a medication that stimulates sweating (pilocarpine). The resultant sweat is then collected on filter paper or in a capillary tube and analyzed for abnormal amounts of sodium and chloride. People with CF have increased amounts of sodium and chloride in their sweat.
It is the direct examination of DNA molecule of the affected child..
No cures for cystic fibrosis there are several treatment methods. Supportive treatment has to be given based on the signs and symptoms.
Many CF patients are on one or more antibiotics at all times, even when healthy, to prophylactically suppress infection. Inhaled therapy with antibiotics such as tobramycin, colistin, and aztreonam is often given for months at a time to improve lung function by impeding the growth of colonized bacteria. Oral antibiotics such as ciprofloxacin or azithromycin are given to help prevent infection or to control ongoing infection.
Chest physiotherapy (CPT) The "Vest Airway Clearance System", a form of chest wall oscillation, is a device and system for clearing excess mucus from lung airways. (ThAIRapy Vest) Intrapulmonary percussive ventilator (IPV) Aerosolized medications that help loosen secretions include dornase alfa and hypertonic saline.[ Bilevel positive airway pressure (BiPAP) Lung transplantation
Halotherapy is the use of salt vapor to treat respiratory ailments, skin irritations, and combat mental lethargy.
Diabetes is the most common non-pulmonary complication of CF. It mixes features of type 1 and type 2 diabetes. cystic fibrosis-related diabetes (CFRD). While oral anti-diabetic drugs are sometimes used, the only recommended treatment is the use of insulin injections or an insulin pump. Dietary restrictions are not recommended.
Treatment of pancreatic insufficiency by replacement of missing digestive enzymes allows the duodenum to properly absorb nutrients and vitamins that would otherwise be lost in the feces.
Development of osteoporosis can be prevented by increased intake of vitamin D and calcium, and can be treated by bisphosphonates.
Poor growth may be avoided by insertion of a feeding tube for increasing calories through supplemental feeds or by administration of injected growth hormone.
Female infertility may be overcome by assisted reproduction technology, particularly embryo transfer techniques. Male infertility caused by absence of the vas deferens may be overcome with testicular sperm extraction(TEST), collecting sperm cells directly from the testicles. Third party reproduction is also a possibility for women with CF.
The prognosis for cystic fibrosis has improved due to earlier diagnosis through screening, better treatment and access to health care.