CYSTIC FIBROSIS

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General Illness Information

Common Name:

Cystic Fibrosis

Medical Term:

Cystic Fibrosis, CF

Description:

An inherited disease of the exocrine glands, primarily affecting the Gastro-intestinal and respiratory systems, and usually characterized by chronic obstructive lung disease, exocrine pancreatic insufficiency, and abnormally high sweat electrolytes.

Causes:

Autosomal recessive genetic defect.

Prevention:

In prenatal situations

Genetic counseling

Prenatal diagnosis for future pregnancies

· For complications

For respiratory infections - maintain pertussis and measles immunity; annual influenza immunization

Avoid general anesthetics. Consider epidural, spinal, or local.

Good medical teamwork in the management of the multifaceted problems of the disease

Signs & Symptoms

Increased concentrations of sodium and chloride in the sweat leading to low levels of sodium and chloride in the blood. These changes may lead to heart arrhythmias.

Dehydration with heat and infections

Wheezing, chronic cough, shortness of breath, barrel chest.

Cyanosis, digital clubbing

Nasal polyposis, pansinusitis

Recurrent bronchitis and pneumonia leading to bronchiectasis

Failure to thrive

Meconium ileus

Distal intestinal obstruction syndrome (DIOS)

Chronic, recurrent abdominal pain

Gastroesophageal reflux

Voracious appetite prior to treatment

Abdominal distension

Hypoelectrolytemia and alkalosis

Characteristically frequent, bulky, foul - smelling, pale stool with a high fat content

Vitamin deficiencies (A,D,E,K)

Rectal prolapse

Delayed weight gain during growth and development

Retarded bone growth

Delayed sexual development

Males ~95% infertile

Decreased female fertility

Risk Factors

Positive family history

Diagnosis & Treatment

Elevation of sodium and chloride concentrations in sweat Genetic screening if sweat test inadequate Stool trypsin and chymotrypsin absent or diminished 72 hour fecal fat excretion - increased fat in stool Decreased albumin, fat soluble vitamins Pulmonary function tests Chest X-Ray
General Measures:
	Outpatient usually Inpatient during infections or other crisis Home care for IV antibiotics
	Care by experienced physician and team (respiratory therapist, nurse, nutritionist, physical therapist, counselor, social worker) Goals are to prevent and treat respiratory failure and pulmonary complications Postural drainage and chest physiotherapy. Pancreatic enzyme replacement Regular exercises for fitness Good nutrition - supplements may be needed

Medications:

Aerosol B2 agonists.

Antibiotics - especially to target Pseudomonas, Staphylococcus

Ibuprofen may retard lung disease.

Annual influenza vaccination, regular pneumococcus vaccination.

DNase: aerosolized mucolytic 2.5 mg neb q day. Use pari-plus nebulizer cup.

Oxygen: when needed

Monitor sleeping O2 stats

Barium enemas or surgery for unrelieved meconium ileus (newborn)

For fecal accumulation and intussusception in adults - enemas of diatrizoate sodium.

Early identification of diabetes, and treatment with insulin

Assisted ventilation with BiPAP is acceptable and temporary

Surgery for some complications

Organ transplant for severe, advanced cases.

Gene therapy in the future.

Activity:
Maintain and improve cardio-respiratory fitness

Diet:

Allow liberal salting of foods per patient preference

High protein

High calories (1.5 x recommended for general population)

High fat (previously not recommended)

Vitamin supplements (double RDA)

May need supplemental feeds, oral or by gastrostomy

Possible Complications :

Collapse of lung.

Pneumothorax

Hemoptysis

Right heart failure

Pulmonary hypertension

Pulmonary emphysema

Digital clubbing

Hypertrophic pulmonary osteoarthropathy

Diabetes: affects growth, lung function

Metabolic alkalosis

Volume depletion

Bleeding esophageal varices

Symptomatic biliary cirrhosis

Intestinal obstruction

Female fertility rate about 80% of normal

Numerous psychosocial aspects

Malnutrition

Retarded growth

· Hypovitaminosis A,D, E, and K

Prognosis

Largely dependent on pulmonary involvement

Prognosis improving due to early detection and aggressive treatment

Median survival is to age 31

Other

'Nothing Specified'.