Cystic Fibrosis in Primary Care: An Essential Guide to a Complex, Multi-System Disease

Foreword
Preface
Contents
Contributors
Chapter 1: Evolution of Cystic Fibrosis Care
	The Discovery of Cystic Fibrosis
	Cystic Fibrosis Foundation and CF Care Centers
	Summary of Chapter Content
	References
Chapter 2: CF Basics
	Genetics and Demographics
		Genetics
		Incidence
		Survival
		Diagnosis
		Sweat Testing
		Newborn Screening
		Genetic Testing
		CRMS/CFSPID
		CFTR-RD
	Clinical Manifestations
		Lung Disease
		Pancreatic Insufficiency and Malabsorption
		Liver Disease
		Cystic Fibrosis-Related Diabetes (CFRD)
		Depression and Anxiety
		Colorectal Cancer
		Reproductive Challenges
		Treatment Paradigm Shift
	References
Chapter 3: CFTR Physiology
	Introduction
	Molecular Mechanism of Cystic Fibrosis
	Pathophysiology of Cystic Fibrosis in Various Organ Systems
		Sweat Glands
		Lungs
		Gastrointestinal Tract
		Pancreas
		Hepatobiliary System
		Reproductive Tract
	Conclusion
	References
Chapter 4: Spirometry in Cystic Fibrosis
	Introduction
	Spirometry and Pulmonary Function Testing
	Spirometry
	Forced Expiratory Volume in 1 Second (FEV1)
	Forced Vital Capacity (FVC)
	FEV1/FVC
	Slow Vital Capacity (SVC)
	Forced Expiratory Flow 25–75% (FEF 25–75%)
	Lung Clearance Index (LCI)
	Other Parameters
		Post-bronchodilator Testing
		Diffusing Capacity
		Flow-Volume Loop
		Performing Spirometry
		Quality Control
		Cross-Contamination
		The Procedure
		Interpretation
	PFT/Spirometry in the Care of CF Patients
		Clinical Practice Guidelines for Cystic Fibrosis (Cystic Fibrosis Foundation Clinical Guidelines 2019) [1]
		Special Considerations in Children
		1–3 Years of Age
		3–6 Years of Age
		6 Years and Up
		Pulmonary Function Testing in the Long-Term Care of CF Patients
		Pulmonary Function Testing in the Evaluation and Treatment of Pulmonary Exacerbation
	References
Chapter 5: Exercise for CF
	Exercise in the General Population
	Introducing Exercise to the Patient
	Pitfalls to Avoid
	References
Chapter 6: Inflammation in Cystic Fibrosis
	Inflammation in Cystic Fibrosis
		Introduction
		The CF Inflammatory Response
		Neutrophils and Neutrophil Products in CF Lung Disease
		Connecting the CFTR Defect to Inflammation
		The Links Between Defective CFTR and Airway Inflammation
		Bacteria and Lung Inflammation
	Anti-inflammatory Therapies
		Overview
	Current Recommended Therapies
		Antibiotics
		Azithromycin
		Ibuprofen
		Hypertonic Saline
		Exercise
		Medications with Insufficient Evidence
	Cystic Fibrosis Foundation Anti-inflammatory Guidelines [7]
	Future Anti-inflammatory Agents
	References
Chapter 7: CF Airway Clearance
	Background
	Mucolytic Agents
		General Principles
		Recombinant Human DNAse (Dornase Alfa, rhDNase)
		Hypertonic Saline
		N-Acetylcysteine (NAC)
		Inhaled Mannitol
	Airway Clearance Techniques (ACTs)
		General Guidelines
		Conventional Chest Physiotherapy (CPT)
		Active Cycle of Breathing Technique (ACBT)
		Autogenic Drainage (AD)
		Positive Expiratory Pressure (PEP) Devices and Oscillating PEP
		High-Frequency Chest Wall Oscillation (HFCWO)
		Novel ACT Devices
		Exercise and Importance of Compliance
	Conclusion
	References
Chapter 8: Acute and Chronic Infection Management in CF
	Pathophysiological Basis for Infection
	Epidemiology
	Clinical Microbiology in Cystic Fibrosis
		Staphylococcus aureus (SA)
		Pseudomonas aeruginosa (PA)
		Burkholderia cepacia Complex
			Nontuberculous Mycobacteria
		Stenotrophomonas maltophilia
		Achromobacter xylosoxidans
			Other Bacteria
			Fungi
			Respiratory Viruses
	Pulmonary Exacerbations (PEx): Diagnosis and Etiology
	Pulmonary Exacerbations: Treatment
		Antibiotic Therapy
	Chronic Infections
	Pharmacokinetic Considerations
	Lung Transplantation
	Infection Prevention and Control
	References
Chapter 9: Sexual and Reproductive Health and Counseling
	General Principles of SRH
	Pubertal Development
	Contraception
	Sexual Function
	Sexually Transmitted Infections and Other Concerns
	Infertility
		Infertility Among Men with CF
		Infertility Among Women with CF
		Achieving Fertility Among Patients with CF
	Preconception Care
		Genetic and Ethical Implications of Pregnancy
		Medical Optimization Prior to Pregnancy
	Pregnancy
	Intrapartum Management
	Delivery
	Postpartum
	Breastfeeding
	Conclusion
	References
Chapter 10: Gastrointestinal Disease and Nutrition in Cystic Fibrosis
	Pancreatic Insufficiency (PI)
	Intestinal Diseases
	Hepatobiliary Disease
	General Nutrition Issues
	Vitamin Deficiencies
	Bone Health and Nutrition
	References
Chapter 11: CF Related Diabetes
	Introduction
	Pathophysiology of CFRD
		Insulin Function and Utilization
		Effect on Insulin Release
	Clinical Presentation
	Screening and Diagnosis
		Screening
		Diagnosis
	Management of CFRD in Practice
		Glycemic Control with Insulin
		Glycemic Targets and Self-Monitored Blood Glucose
		Weight Management with Insulin
		Pulmonary Function Status and Infection Risk in CFRD
	Complications of CFRD
		Acute Complications
		Chronic Complications
	References
Chapter 12: Electrolyte Abnormalities in CF
	Introduction
	Case
	Epidemiology
	Pathophysiology
	Clinical Presentation
		Exercise-Associated Hyponatremia
	Evaluation
	Treatment
		Osmotic Demyelination Syndrome
	Prevention
	Case Conclusion
	References
Chapter 13: CFTR Carrier Status
	Connection Between Disease and Normal CFTR Function
	CFTR-Related Metabolic Syndrome (CRMS)
	Congenital Bilateral Absence of the Vas Deferens
	Pancreatitis and Pancreatic Insufficiency
	Aquagenic Wrinkling of the Palms
	Disseminated Bronchiectasis
	Allergic Bronchopulmonary Aspergillosis
	Bronchial Asthma
	Chronic Rhinosinusitis
	Nasal Polyposis
	Repression of CFTR Function
	Antenatal Carrier Testing
	References
Chapter 14: CFTR Corrector Therapies/New Therapies
	The Quest for a Cure
	Gene Therapy
	Restoring CFTR Function
	Epithelial Sodium Channel
	References
Chapter 15: Psychology and Psychotherapy in CF
	Overview
		Management
		Psychological Implications
	Systemic Treatment of Cystic Fibrosis
		Coping
		Resilience
	An Insider Perspective
		Infancy
		Childhood
		Adolescence
		Young Adulthood
		Parent
		End of Life
	Conclusion
	References
Index