Cystic Fibros is

By: MA. CLARITA VARQUEZ BSN 2b RLE Group 4

I.

Introduction

Cystic fibrosis is a multi-system disorder of the exocrine glands, leading to increased production of thick mucus in bronchioles, small intestines and pancreatic and bile ducts & even causes fertility problems. It is an autosomal recessive disorder that obstructs small passageways of these organs:

Lungs (bronchioles): atelectasis (lung collapse) & Emphysema (Overinflation of the alveoli) Pancreatic ducts become clogged, impairing digestion and absorption Small intestine: absence of pancreatic enzymes unable to absorb fats and protein.

Symptoms of cystic fibrosis are: In babies and infants,

persistent diarrhea

bulky, foul smelling and greasy stools pale stools

frequent wheezing or pneumonia

chronic cough with thick mucus salty-tasting skin poor growth blockage of the intestine (called meconium ileus) abdominal swelling gassiness vomiting dehydration In children, frequent respiratory infections fever cough difficulty in breathing abdominal pain and discomfort gassiness fast respiration flaring of the nostrils poor appetite malnutrition poor growth

a barrel-chested appearance CF can also cause other medical problems, such as:

sinusitis (inflammation of the nasal sinuses)

nasal polyps (fleshy growths inside the nose) clubbing (rounding and enlargement of fingers and toes)

pneumothorax (rupture of lung tissue and trapping of air between the lung and chest wall)

coughing up blood enlargement of the right side of the heart (called cor pulmonale) protrusion of the rectum through the anus (called rectal prolapse) liver, pancreatic and gallbladder problems delayed puberty reproductive abnormalities (especially male sterility) - Over 90 percent of all males with CF are sterile. Cystic fibrosis is a common genetic disease within the Caucasian (white) population in the United States. The disease occurs in 1 in 2,500 to 3,500 Caucasian newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans. Cystic fibrosis affects 1: 30 Europeans, 1: 3,000 WHITES, 1: 15,000 BLACKS and, 1: 90,000 ASIANS. The greatest risk factor for cystic fibrosis is a family history of the disease. If both come from families with cystic fibrosis, then each of their children has a one in four chance of having cystic fibrosis. Risk is also greater if they are under Northern European ancestry. In that case, they have a one in 29 chance of carrying the gene. Among other ethnic groups in the United States, Hispanics have a one in 46

chance of carrying the gene, blacks have a one in 65 chance and AsianAmericans a one in 90 chance. CF is carried as an autosomal recessive trait by about 3% of the white population. The responsible gene has been localized on the long arm of chromosome 7. It encodes a membrane-associated protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The most common gene mutation, F508, occurs in about 70% of CF alleles; > 1500 less common CFTR mutations have been identified. CFTR seems to be part of a cAMP-regulated Cl channel, regulating Cl and Na transport across epithelial membranes. A number of additional functions are considered likely. Disease manifests only in homozygotes. Heterozygotes may show subtle abnormalities of epithelial electrolyte transport but are clinically unaffected.

II.

Pathophysiology

III.

Laboratory Tests

Diagnosis of CF can be determined at three stages - prenatal, postnatal and early childhood. In pregnant women, the amniotic fluid surrounding the fetus can be tested for fetal intestinal enzymes. Using a procedure called an amniocentesis, a sample of amniotic fluid is extracted from the amniotic sac (the protective covering around the fetus) and analyzed. In a fetus with CF, the enzymes are decreased. Sweat Chloride Test The most common test for children and young adults is the electrolyte sweat test. This test measures the amount of electrolytes (sodium [salt], potassium and chloride) in a person's sweat. This is done by applying a chemical (called pilocarpine-used to stimulate sweat production) to the forearm and using a mild electric current to cause the area to sweat. It analyzes sodiam and chloride content in sweat and if this results to higher than normal amounts of sodium and chloride,

CF is present. It is done after 3-4 weeks after birth. Patient often report that infants taste salty when kissed.

Immunoreactive Trypsinogen Test (IRT)

In newborn babies who cannot produce enough sweat for a sweat test, an IRT may be done. An IRT is a blood test that involves drawing blood a couple of days after birth and evaluating the presence of the protein trypsinogen. If the test is positive, it should be confirmed by a mutation analysis (i.e., genetic testing). The combination of an IRT and a mutation analysis is sensitive 90% to 100% of the time.

Nasal Potential Difference (NPD) Measurement

As Na+ (sodium) and Cl- ions move across the membranes of the cells lining the airway, they generate what is called an electric potential difference (the amount of energy required to move an electrical charge from one point to another). In the nasal passages, this electric potential difference is known as the nasal potential difference (NPD), and it can be easily measured with a surface electrode. Because Na+ and Cl- transport is abnormal in CF patients, NPD measurements are very different in CF patients than in people who do not have CF. This test is especially helpful when the sweat electrolyte test and/or the genetic tests are inconclusive. However, the success of the test is highly dependent on the skill of the technician, and should be done in a special center.

Genetic Testing

A genetic test, also known as a genotype test or mutation analysis, is designed to analyze DNA for the presence of one of the several hundred mutations that can cause CF. The test involves collecting a sample of the patient's blood. The test cannot detect all of the mutations that can cause CF, however, so its sensitivity is only about 80% to 85%. Genetic testing cannot be used to predict the severity of symptoms. There is no way to know, based on a person's genotype, whether CF will be fatal or mild.

Generally, a genetic test is done if a patient's sweat test is negative and there is still high suspicion that the patient has CF.

Pulmonary Function Tests

Pulmonary function tests may be done to assess the patient's respiratory dysfunction and whether the patient is healthy enough to receive a lung transplant, if necessary.

72-hour stool collection (Keep food diary)

Analyzes fat & enzyme content. Chest x-ray To reveal atelectasis & obstructive emphysema

IV.

Medical Management

Attempt aggressive medical management prior to surgical intervention. Patients may report chronic purulent nasal discharge or cough, but initiate therapy whenever they experience a subjective increase in nasal obstruction, cough, or drainage. Oral antibiotics effective against Pseudomonas species and staphylococci, coupled with aggressive nasal toilet, may improve symptoms.

Antibiotic choices: The bacteriology of sinonasal disease in patients with cystic fibrosis (CF) differs from that in patients without CF. This difference affects antibiotic choices. The most notable difference is the nearly ubiquitous presence of Pseudomonas species in patients with CF. As detailed above, sinus aspirates are important to direct treatment against Pseudomonas species. Nasal toilet: Because mucociliary clearance is chronically impaired, irrigations are critical and should be a daily routine as

patients begin to develop sinonasal symptoms. Nasal saline irrigations serve to decrease bacterial colonization, wash away inspissated secretions that lead to obstruction, and temporarily aid in vasoconstriction. Irrigation is also required after any surgical intervention because surgery enlarges sinus ostia but does not address underlying defects in mucociliary clearance

Physiotherapy: to help clear the lungs of mucus, which attracts infection Exercise: beneficial as a form of physiotherapy and for general health Nutrition: enzyme tablets to help digest food and dietetic information.

V.

Surgical Management

Surgical Therapy Nasal polypectomy to relieve obstruction is the most common surgical procedure in CF, and most patients get symptomatic improvement.375 Recurrence of polyps is common, but the incidence of polyposis usually wanes after the second decade. Gallstones are common, and symptomatic disease may require elective cholecystectomy in as many as 5% of CF adults. Lobectomy is occasionally indicated for massive hemoptysis that is refractory to bronchial artery embolization. Partial lung resection has been advocated for apparently localized disease and recurrent severe exacerbations. However, the generalized lung disease continues to progress; the limited probability of long-termbenefits dictates caution in patient selection.

Transplantation Lung transplantation has become an accepted treatment for respiratory failure secondary to CF. Heart-lung transplant has been largely replaced by sequential double-lung transplant because of limited organ availability. Patients should be referred when their prognosis is about equal to the waiting time for donor lungs, currently about 2 years after acceptance as a lung transplant candidate. More than 1600 lung transplants have been performed for CF around the world. The transplanted lungs remain free of CF but are subject to secondary infection, acute rejection, and chronic rejection (bronchiolitis obliterans syndrome). The 5-year survival is 48%as good as that of lung transplant recipients with other causes of lung disease. Living lobar transplantation is an effective alternative to conventional cadaveric lung transplants.380 The lobe donors must have sufficiently large lungs that their lower lobe fills the recipients hemithorax. Survival appears to be similar to that following conventional lung transplantation.

VI.

Medications

Nasal corticosteroids These agents decrease mucosal edema and promote mucus clearance.

Fluticasone furoate (Veramyst)Has potent glucocorticoid activity, weak mineralocorticoid activity, and the least systemic absorption of nasal steroid preparations. Contraindicated to patients with hypersensitivity to drug.

Mometasone furoate monohydrate (Nasonex)Has potent glucocorticoid activity, weak mineralocorticoid activity, and the least systemic absorption of nasal steroid preparations. Decreases rhinovirus-induced up-regulation in respiratory epithelial cells and modulates pretranscriptional mechanisms. Reduces intraepithelial eosinophilia and inflammatory cell infiltration (eg, eosinophils, lymphocytes, monocytes, neutrophils, plasma cells). Its contraindications are documented hypersensitivity; nasal septal perforation; nasal surgery and nasal trauma.

Systemic corticosteroids Short-term bursts may be beneficial for acute exacerbations and may prevent increased intraoperative bleeding in patients with severe polyposis.

Prednisolone (Delta-Cortef, Econopred)Suppresses key components of immune system. Widely available in syrup form; easily dosed for children. Containdicated to patients with documented hypersensitivity; viral infection; peptic ulcer disease; hepatic dysfunction; connective tissue infections; fungal or tubercular skin infections and GI disease.

Prednisone (Deltasone, Meticorten, Orasone)Suppresses key components of immune system. Widely available in syrup form; easily dosed for children. Contraindicatd to patients with documented hypersensitivity; viral infection; peptic ulcer disease; hepatic dysfunction; connective tissue infections; fungal or tubercular skin infections and GI disease.

Dexamethasone (Decadron, Dexasone, Solurex)Can be administered IV at induction of anesthesia; may help immediate postoperative inflammation. Contraindications include: coadministration with estrogens may decrease prednisone clearance; concurrent use with digoxin may cause digitalis toxicity secondary to hypokalemia; phenobarbital, phenytoin, and rifampin may increase metabolism of glucocorticoids (consider increasing maintenance dose); monitor for hypokalemia with coadministration of diuretics.

Decongestants These agents are helpful in improving the nasal airway and shrinking down swollen tissues in some patients.

Pseudoephedrine hydrochloride (Sudafed, Actifed)Sympathomimetic agent that shrinks swollen nasal mucosa. Contraindicated to patients with documented hypersensitivity; severe anemia; postural hypertension or hypotension; closed angle glaucoma; head trauma and cerebral hemorrhage. Anti-inflammatory Therapy With Ibuprofen A recent study of high-dose ibuprofen over 4 years indicates that young CF patients (