Cystic Fibrosis (CF)


Epidemiology

History

Frequency

Genetics


Physiology

Genetics of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Normal Function of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Protein

Mutations of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Types of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations

Physiologic Consequences of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Protein Dysfunction


Pathology


Diagnosis

Arterial Blood Gas (ABG) (see Arterial Blood Gas, [[Arterial Blood Gas]])

Sputum Gram Stain and Culture

General Information

Common Organisms Isolated from Respiratory Tract in Cystic Fibrosis (All Ages, From 2013 Cystic Fibrosis Registry)

Other Organisms

Pulmonary Function Test (PFT’s) (see Pulmonary Function Tests, [[Pulmonary Function Tests]])

CXR/Chest CT Patterns

Stool Pancreatic Elastase

Kidney/Ureter/Bladder (KUB) X-Ray

Immunoglobulin Levels

Serum Immunoglobulin E (IgE)

Serum Aspergillus Precipitins

Immediate Hypersensitivity to Aspergillus

Skin Testing

CH50

Alternate Complement

Serum Immune Complexes

Sweat Chloride Test

Technique

Interpretation of Sweat Chloride Values

False-Negative Sweat Chloride Test

False-Positive Sweat Chloride Test

Genetic Analysis


Screening


Clinical Manifestations

General Comments

Dermatologic Manifestations

Sweat Gland Dysfunction

Endocrinologic Manifestations

Diabetes Mellitus (DM) (see Diabetes Mellitus, [[Diabetes Mellitus]])

Gastrointestinal Manifestations

Biliary Cirrhosis (see xxxx, [[]])

Cholelithiasis

Distal Intestinal (Partial or Complete) Obstruction (see Small Bowel Obstruction, [[Small Bowel Obstruction]])

Failure to Thrive

Gastroesophageal Reflux Disease (GERD) (see Gastroesophageal Reflux Disease, [[Gastroesophageal Reflux Disease]])

Non-Alcoholic Fatty Liver Disease (NAFLD) (see Non-Alcoholic Fatty Liver Disease, [[Non-Alcoholic Fatty Liver Disease]])

Malabsorption-Related Diarrhea Due to Exocrine Pancreatic Insufficiency (see Diarrhea, [[Diarrhea]]): substantive pancreatic function remains in only 5-10% of cases

Meconium Ileus

Rectal Prolapse

Recurrent Abdominal Pain Due to Duodenal Irritation (see Abdominal Pain, [[Abdominal Pain]])

Symptomatic Pancreatitis (see Acute Pancreatitis, [[Acute Pancreatitis]])

Weight Loss (see Weight Loss, [[Weight Loss]])

Genitourinary Manifestations

Delayed Puberty

Endocervicitis

Female Infertility

Male Infertility

Otolaryngologic Manifestations

Chronic Rhinitis (see Rhinitis, [[Rhinitis]])

Nasal Polyps (see Nasal Polyps, [[Nasal Polyps]])

Recurrent Acute or Chronic Sinusitis (see Acute Rhinosinusitis, [[Acute Rhinosinusitis]])

Pulmonary Manifestations

General Comments

Bronchiectasis (see Bronchiectasis, [[Bronchiectasis]])

Bronchiolitis (see Bronchiolitis, [[Bronchiolitis]])

Bronchiolitis Obliterans (BO) (see Bronchiolitis Obliterans, [[Bronchiolitis Obliterans]])

Chronic Cough (see Cough, [[Cough]])

Hemoptysis (see Hemoptysis, [[Hemoptysis]])

Lobar/Segmental Atelectasis(see Atelectasis, [[Atelectasis]])

Pneumothorax (see Pneumothorax, [[Pneumothorax]])

Pulmonary Hypertension/Cor Pulmonale (see Pulmonary Hypertension, [[Pulmonary Hypertension]])

Recurrent Sinopulmonary Infection/Bronchitis/Pneumonia (see Pneumonia, [[Pneumonia]])

Respiratory Failure/Chronic Hypoventilation (see Respiratory Failure, [[Respiratory Failure]]) and Chronic Hypoventilation (see Chronic Hypoventilation, [[Chronic Hypoventilation]])

Thick, Tenacious Mucus

Renal Manifestations

Metabolic Alkalosis (see Metabolic Alkalosis, [[Metabolic Alkalosis]])

Rheumatologic Manifestations

Clubbing (see Clubbing, [[Clubbing]])

Hypertrophic Pulmonary Osteoarthropathy (HPO) (see xxxx, [[xxxx]])

Small Stature

Other Manifestations


Treatment

Antibiotics

Pseudomonas Aeruginosa (see Pseudomonas Aeruginosa, [[Pseudomonas Aeruginosa]])

Staphylococcus Aureus (see Staphylococcus Aureus, [[Staphylococcus Aureus]])

CFTR-Active Agents

Ivacaftor (Kalydeco) (see Ivacaftor, [[Ivacaftor]])

Lumacaftor + Ivacaftor (Orkambi) (see Lumacaftor + Ivacaftor, [[Lumacaftor + Ivacaftor]])

Intravenous Immunoglobulin (IVIG) (see Intravenous Immunoglobulin, [[Intravenous Immunoglobulin]])

Bronchoscopy (see Bronchoscopy, [[Bronchoscopy]])

Postural Drainage with Chest Physiotherapy (1-4x/day)

Aerosolized Saline

Aerosolized Hypertonic Saline (see Hypertonic Saline, [[Hypertonic Saline]])

Bronchodilators

Oxygen (see Oxygen, [[Oxygen]])

Corticosteroids (see Corticosteroids, [[Corticosteroids]])

Non-Steroidal Anti-Inflammatory Drugs (NSAID) (see Non-Steroidal Anti-Inflammatory Drug, [[Non-Steroidal Anti-Inflammatory Drug]])

Cough Suppressants

Iodides

Mucolytics

Dornase Alfa (Pulmozyme) (see Dornase Alfa, [[Dornase Alfa]])

Aerosolized Elastase Inhibitors

Amiloride (see Amiloride, [[Amiloride]])

ATP (and UTP)

Exercise

Gene Therapy

Nutrition/Pancreatic Enzyme/Vitamins

Treatment of Pneumothorax (see Pneumothorax, [[Pneumothorax]])

Treatment of Gastrointestinal Complications

Treatment of Nasal Polyps (see Nasal Polyps, [[Nasal Polyps]])

Prevention

Lung Resection

Lung Transplantation (see Lung Transplant, [[Lung Transplant]])


Prognosis

Median Survival Rates

Risk of Death is Predicted by FEV1

Positive Survival Predictors

Negative Survival Predictors


References

General

Mortality Rates

Treatment