Cystic Fibrosis

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.

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