BOOK
Cystic Fibrosis, An Issue of Pediatric Clinics of North America, E-Book
Susan G. Marshall | Drucy Borowitz
(2016)
Additional Information
Book Details
Abstract
Cystic Fibrosis (CF) is a multisystem disease whose symptoms and signs involve the gastrointestinal tract (thus affecting nutritional status), endocrine system, reproductive system and the respiratory tract (nose, sinuses and lungs). Despite new treatments, the median survival for patients with CF is less than optimal, primarily due to complications of obstructive lung disease. Currently there are approximately 60,000-80,000 people worldwide with CF. The clinical manifestations of CF are caused by dysfunction of CFTR (cystic fibrosis transmembrane conductance regulator), a multifunctional cyclic-AMP regulated ion channel protein. Over time, there has been dramatic improvement in CF patient life expectancy, in large part related to earlier diagnosis (newborn screening), better understanding of molecular genetics and underlying pathophysiology, the integrated and highly specialized Cystic Fibrosis Foundation Accredited Care Centers, and development of a wide range of new treatments and therapies, some of which target the basic CFTR defect. This edition of Pediatric Clinics of North America will offer general pediatricians and family physicians, as well as subspecialists, an update of the extraordinary progress made in the understanding and treatment of Cystic Fibrosis.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Cystic Fibrosis\r | i | ||
| Copyright\r | ii | ||
| CME Accreditation Page | iii | ||
| PROGRAM OBJECTIVE | iii | ||
| TARGET AUDIENCE | iii | ||
| LEARNING OBJECTIVES | iii | ||
| ACCREDITATION | iii | ||
| DISCLOSURE OF CONFLICTS OF INTEREST | iii | ||
| UNAPPROVED/OFF-LABEL USE DISCLOSURE | iii | ||
| TO ENROLL | iv | ||
| METHOD OF PARTICIPATION | iv | ||
| CME INQUIRIES/SPECIAL NEEDS | iv | ||
| Contributors | v | ||
| CONSULTING EDITOR | v | ||
| EDITORS | v | ||
| AUTHORS | v | ||
| Contents | ix | ||
| Foreword: Cystic Fibrosis\r | ix | ||
| Preface: Cystic Fibrosis\r | ix | ||
| Background and Epidemiology\r | ix | ||
| Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype\r | ix | ||
| Cystic Fibrosis Diagnosis and Newborn Screening\r | ix | ||
| Cystic Fibrosis: Microbiology and Host Response\r | x | ||
| Respiratory System Disease\r | x | ||
| Nutrition and Growth in Cystic Fibrosis\r | x | ||
| Gastrointestinal, Pancreatic, and Hepatobiliary Manifestations of Cystic Fibrosis\r | x | ||
| Endocrine Disorders in Cystic Fibrosis\r | xi | ||
| Transplantation\r | xi | ||
| Psychosocial Challenges/Transition to Adulthood\r | xi | ||
| New Therapeutic Approaches to Modulate and Correct Cystic Fibrosis Transmembrane Conductance Regulator\r | xi | ||
| PEDIATRIC CLINICS OF\rNORTH AMERICA\r | xiii | ||
| FORTHCOMING ISSUES | xiii | ||
| October 2016 | xiii | ||
| December 2016 | xiii | ||
| February 2017 | xiii | ||
| RECENT ISSUES | xiii | ||
| June 2016 | xiii | ||
| April 2016 | xiii | ||
| February 2016 | xiii | ||
| Foreword: Cystic Fibrosis\r | xv | ||
| Preface: Cystic Fibrosis\r | xvii | ||
| Background and Epidemiology | 567 | ||
| Key points | 567 | ||
| INTRODUCTION | 567 | ||
| CYSTIC FIBROSIS FOUNDATION PATIENT REGISTRY | 568 | ||
| INCIDENCE | 568 | ||
| PREVALENCE AND TRENDS | 569 | ||
| Demographics | 569 | ||
| CLINICAL CHARACTERISTICS | 572 | ||
| Lung Disease | 572 | ||
| Nutrition | 574 | ||
| Microbiology | 574 | ||
| CHRONIC AND ACUTE MANAGEMENT | 576 | ||
| COMMON COMPLICATIONS OF CYSTIC FIBROSIS | 578 | ||
| SURVIVAL | 578 | ||
| SUMMARY | 579 | ||
| REFERENCES | 579 | ||
| Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator | 585 | ||
| Key points | 585 | ||
| THE HISTORY OF THE DISCOVERY OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR AS THE GENE RESPONSIBLE FOR CYSTIC FIBROSIS | 585 | ||
| RESOURCES TO DESCRIBE AND CHARACTERIZE VARIATION IN CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR | 586 | ||
| NOMENCLATURE AND TERMINOLOGY | 588 | ||
| CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENETIC TESTS | 589 | ||
| GENETIC TESTING INTERPRETATION | 591 | ||
| GENOTYPE AND PHENOTYPE RELATIONSHIPS IN CYSTIC FIBROSIS | 592 | ||
| SPECTRUM OF DISORDERS WITH MUTATIONS IN CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR | 593 | ||
| BEYOND CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR: GENETIC MODIFIERS OF CYSTIC FIBROSIS | 595 | ||
| REFERENCES | 596 | ||
| Cystic Fibrosis Diagnosis and Newborn Screening | 599 | ||
| Key points | 599 | ||
| INTRODUCTION | 599 | ||
| ESTABLISHING THE DIAGNOSIS OF CYSTIC FIBROSIS | 600 | ||
| General Principles | 600 | ||
| Diagnosing Cystic Fibrosis in Newborn-screened Infants | 601 | ||
| Diagnosing Cystic Fibrosis in Symptomatic Individuals | 601 | ||
| CYSTIC FIBROSIS NEWBORN SCREENING | 602 | ||
| Rationale for Screening for Cystic Fibrosis: the Impact of Early Diagnosis on Cystic Fibrosis Outcomes | 602 | ||
| General Principles of Newborn Screening | 603 | ||
| History of Newborn Screening for Cystic Fibrosis | 604 | ||
| Cystic Fibrosis Newborn Screening Algorithms | 604 | ||
| Quality Improvement in Cystic Fibrosis Newborn Screening | 606 | ||
| PRENATAL SCREENING AND TESTING FOR CYSTIC FIBROSIS | 606 | ||
| INDETERMINATE DIAGNOSES | 607 | ||
| Indeterminate Diagnosis in Infants Identified by Newborn Screening | 607 | ||
| Cystic Fibrosis Transmembrane Conductance Regulator–related Disorder | 609 | ||
| SUMMARY | 610 | ||
| REFERENCES | 610 | ||
| Cystic Fibrosis | 617 | ||
| Key points | 617 | ||
| INTRODUCTION | 617 | ||
| CYSTIC FIBROSIS MICROBIOLOGY | 618 | ||
| The Evolving Role of Methodology | 618 | ||
| Traditional Cystic Fibrosis Respiratory Pathogens: Epidemiology | 620 | ||
| Staphylococcus aureus | 621 | ||
| Epidemiology and clinical associations | 621 | ||
| Subtypes | 622 | ||
| Treatment | 622 | ||
| Pseudomonas aeruginosa | 623 | ||
| Epidemiology and clinical associations | 623 | ||
| Treatment | 624 | ||
| Burkholderia cepacia Complex | 624 | ||
| Epidemiology and clinical associations | 624 | ||
| They are associated with more severe lung disease | 624 | ||
| They can be transmissible between persons with cystic fibrosis | 624 | ||
| Clinical outcomes of Burkholderia cepacia complex infections are unpredictable | 624 | ||
| Treatment | 625 | ||
| Stenotrophomonas maltophilia | 625 | ||
| Haemophilus influenzae | 625 | ||
| Achromobacter xylosoxidans | 625 | ||
| Nontuberculous mycobacteria | 625 | ||
| Fungi and Viruses | 626 | ||
| The Cystic Fibrosis Airway Microbiome and Future Directions | 626 | ||
| Cystic Fibrosis Microbiology: Summary | 626 | ||
| HOST RESPONSE IN CYSTIC FIBROSIS LUNG DISEASE | 627 | ||
| Cystic Fibrosis Transmembrane Conductance Regulator, Impairments in Host Defense and Inflammation | 627 | ||
| Host Response and Inflammation as Biomarkers of Disease | 628 | ||
| Host Response to Pseudomonas aeruginosa | 629 | ||
| Antiinflammatory Therapies in Cystic Fibrosis | 629 | ||
| Ibuprofen | 629 | ||
| Chronic azithromycin | 629 | ||
| Corticosteroids and leukotriene receptor antagonists | 630 | ||
| Clinical trials | 630 | ||
| SUMMARY | 630 | ||
| REFERENCES | 631 | ||
| Respiratory System Disease | 637 | ||
| Key points | 637 | ||
| PATHOPHYSIOLOGY | 637 | ||
| Lung Disease, Mortality, and Determinants of Lung Disease Severity | 638 | ||
| CLINICAL PRESENTATION | 639 | ||
| Early Pulmonary Disease | 639 | ||
| Later Pulmonary Disease | 639 | ||
| SINUS DISEASE | 639 | ||
| ASSESSMENT AND MONITORING OF LUNG DISEASE | 640 | ||
| Lung Function Testing | 640 | ||
| Spirometry | 640 | ||
| Radiology | 641 | ||
| Chest radiographs and chest computed tomography | 641 | ||
| Airway Cultures | 642 | ||
| Bronchoscopy | 644 | ||
| Pulmonary Exacerbations | 644 | ||
| TREATMENT OF PULMONARY EXACERBATIONS | 645 | ||
| Site of Treatment: Outpatient Versus Inpatient | 645 | ||
| Antibiotics | 646 | ||
| Aminoglycosides | 646 | ||
| Beta-lactam antibiotics | 646 | ||
| CHRONIC PULMONARY TREATMENT | 646 | ||
| AIRWAY CLEARANCE THERAPY | 647 | ||
| MUCUS-MODIFYING AGENTS | 647 | ||
| ANTIINFLAMMATORY DRUGS | 647 | ||
| ANTIMICROBIAL AGENTS | 647 | ||
| CYSTIC FIBROSIS TRANSMEMBRANE REGULATOR CORRECTORS AND POTENTIATORS | 650 | ||
| COMPLICATIONS | 650 | ||
| Hemoptysis | 650 | ||
| Pneumothorax | 651 | ||
| RESPIRATORY INSUFFICIENCY | 652 | ||
| SUMMARY | 652 | ||
| SUPPLEMENTARY DATA | 653 | ||
| REFERENCES | 653 | ||
| Nutrition and Growth in Cystic Fibrosis | 661 | ||
| Key points | 661 | ||
| IMPORTANCE OF ADEQUATE NUTRITION AND GROWTH | 661 | ||
| ASSESSMENT OF GROWTH AND NUTRITIONAL STATUS | 662 | ||
| NUTRITIONAL GOALS | 664 | ||
| Calories | 664 | ||
| Enzyme Administration | 664 | ||
| Fat-Soluble Vitamins | 664 | ||
| Vitamin A | 667 | ||
| Vitamin D | 667 | ||
| Vitamin E | 667 | ||
| Vitamin K | 670 | ||
| Minerals and Trace Elements | 670 | ||
| Sodium | 670 | ||
| Fluoride | 670 | ||
| Zinc | 670 | ||
| Iron | 670 | ||
| Essential Fatty Acids | 670 | ||
| DIFFICULTY OF ATTAINING APPROPRIATE NUTRITIONAL STATUS | 671 | ||
| Insufficient Caloric Intake | 671 | ||
| Poor appetite | 671 | ||
| Malabsorption | 671 | ||
| Psychosocial concerns | 672 | ||
| Increased Caloric Expenditure | 672 | ||
| Pulmonary disease | 672 | ||
| Other systemic disease | 672 | ||
| Cystic fibrosis transmembrane conductance regulator mutations | 672 | ||
| HOW TO OPTIMIZE NUTRITIONAL STATUS | 672 | ||
| Nutritional Therapy | 673 | ||
| Behavioral Treatment | 673 | ||
| Pharmacotherapy | 673 | ||
| Appetite stimulants | 673 | ||
| Growth hormone | 674 | ||
| Cystic fibrosis transmembrane conductance regulator modulators | 674 | ||
| Enteral Nutrition | 674 | ||
| Formula | 674 | ||
| Enzyme administration | 674 | ||
| SUMMARY | 675 | ||
| REFERENCES | 675 | ||
| Gastrointestinal, Pancreatic, and Hepatobiliary Manifestations of Cystic Fibrosis | 679 | ||
| Key points | 679 | ||
| PANCREAS | 680 | ||
| Diagnosis of Pancreatic Insufficiency | 681 | ||
| Management of Pancreatic Insufficiency | 681 | ||
| PANCREATITIS | 681 | ||
| MONITORING OF PANCREATIC SUFFICIENCY TO PANCREATIC INSUFFICIENCY | 683 | ||
| GASTROESOPHAGEAL REFLUX DISEASE | 683 | ||
| INTESTINAL MOTILITY | 684 | ||
| Gastric Emptying | 684 | ||
| Small Bowel Transit | 684 | ||
| Total Gastrointestinal Transit | 684 | ||
| PEPTIC ULCER DISEASE/HELICOBACTER PYLORI | 684 | ||
| SMALL BOWEL BACTERIAL OVERGROWTH | 685 | ||
| MUCOSAL DISEASES | 685 | ||
| Celiac Disease | 685 | ||
| Inflammatory Bowel Disease | 685 | ||
| APPENDICEAL FINDINGS | 687 | ||
| INTUSSUSCEPTION | 687 | ||
| PNEUMATOSIS INTESTINALIS | 687 | ||
| MECONIUM ILEUS | 687 | ||
| DISTAL INTESTINAL OBSTRUCTION SYNDROME | 688 | ||
| CONSTIPATION | 688 | ||
| CLOSTRIDIUM DIFFICILE | 689 | ||
| FIBROSING COLONOPATHY | 689 | ||
| RECTAL PROLAPSE | 690 | ||
| GASTROINTESTINAL MALIGNANCY | 690 | ||
| SPECTRUM OF HEPATOBILIARY DISEASE | 691 | ||
| Biliary Tract | 691 | ||
| Liver | 691 | ||
| CYSTIC FIBROSIS–ASSOCIATED LIVER DISEASE | 691 | ||
| Diagnosis of Cystic Fibrosis–Associated Liver Disease | 692 | ||
| Management of Cystic Fibrosis–Associated Liver Disease | 692 | ||
| SUMMARY | 694 | ||
| REFERENCES | 694 | ||
| Endocrine Disorders in Cystic Fibrosis | 699 | ||
| Key points | 699 | ||
| INTRODUCTION | 699 | ||
| THE RELATIONSHIP OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENETICS AND COMPLICATIONS OF CYSTIC FIBROSIS | 700 | ||
| CYSTIC FIBROSIS–RELATED DIABETES | 700 | ||
| Epidemiology | 700 | ||
| Pathophysiology | 701 | ||
| Diagnosis of Cystic Fibrosis–Related Diabetes | 701 | ||
| Treatment of Cystic Fibrosis–Related Diabetes | 702 | ||
| Hypoglycemia | 702 | ||
| LINEAR GROWTH ABNORMALITIES IN CYSTIC FIBROSIS | 702 | ||
| Recommendations | 703 | ||
| CYSTIC FIBROSIS–RELATED BONE DISEASE | 703 | ||
| Prevalence and Pathogenesis | 703 | ||
| Approach to Screening and Treatment of Cystic Fibrosis—Related Bone Disease | 704 | ||
| MALE HYPOGONADISM IN CYSTIC FIBROSIS | 705 | ||
| SUMMARY | 705 | ||
| REFERENCES | 705 | ||
| Transplantation | 709 | ||
| Key points | 709 | ||
| LUNG TRANSPLANTATION | 709 | ||
| Introduction | 709 | ||
| Indications | 709 | ||
| Contraindications | 710 | ||
| Timing of Transplant | 711 | ||
| Surgery | 712 | ||
| Posttransplant Management | 713 | ||
| Immunosuppression | 713 | ||
| Antimicrobials | 714 | ||
| Adolescents | 714 | ||
| Complications | 715 | ||
| Early posttransplant (1–6 months) | 716 | ||
| Infection | 716 | ||
| Immunologic | 717 | ||
| Anastomotic | 718 | ||
| Immunosuppression | 718 | ||
| Late postoperative (greater than 6 months) | 718 | ||
| Infection | 718 | ||
| Immunologic | 718 | ||
| Obliterative bronchiolitis/bronchiolitis obliterans syndrome | 719 | ||
| Restrictive allograft syndrome | 719 | ||
| Posttransplant lymphoproliferative disease | 719 | ||
| Immunosuppression | 720 | ||
| Outcomes | 720 | ||
| Future | 720 | ||
| LIVER TRANSPLANTATION | 721 | ||
| Introduction | 721 | ||
| Indications | 721 | ||
| Contraindications | 722 | ||
| Timing of Transplant | 723 | ||
| Postoperative Management | 723 | ||
| Complications | 724 | ||
| Outcomes | 724 | ||
| Future | 724 | ||
| SUMMARY | 730 | ||
| REFERENCES | 730 | ||
| Psychosocial Challenges/Transition to Adulthood | 735 | ||
| Key points | 735 | ||
| BACKGROUND | 735 | ||
| TRANSITION TO ADULTHOOD | 736 | ||
| Preparation of Individuals with Cystic Fibrosis and Their Families | 737 | ||
| Preparation of the Adult Cystic Fibrosis Care Center | 741 | ||
| PSYCHOLOGICAL EFFECTS OF LIVING WITH CYSTIC FIBROSIS | 741 | ||
| SOCIAL AND ECONOMIC EFFECTS OF LIVING WITH CHRONIC ILLNESS | 743 | ||
| PLANNING A LIFE WITH CYSTIC FIBROSIS | 743 | ||
| Education and Career Choices | 743 | ||
| Vocational Planning | 745 | ||
| Family Planning and Pregnancy | 746 | ||
| SUMMARY | 747 | ||
| REFERENCES | 747 | ||
| New Therapeutic Approaches to Modulate and Correct Cystic Fibrosis Transmembrane Conductance Regulator | 751 | ||
| Key points | 751 | ||
| Introduction | 752 | ||
| Approaching cystic fibrosis transmembrane conductance regulator: review of structure and function | 752 | ||
| High-throughput screening to identify cystic fibrosis transmembrane conductance regulator modulators | 753 | ||
| Augmenting cystic fibrosis transmembrane conductance regulator activity: the potentiator approach | 754 | ||
| Improved cystic fibrosis transmembrane conductance regulator processing: the corrector approach | 758 | ||
| Combining potentiator and corrector approaches | 758 | ||
| Additional modulator therapies | 759 | ||
| Alternate therapeutic approaches: beyond correctors and potentiators | 760 | ||
| Approaches to maximize the benefit of cystic fibrosis transmembrane conductance regulator modulators | 760 | ||
| Lessons from ivacaftor | 760 | ||
| Summary | 761 | ||
| References | 761 | ||
| Index | 765 |