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Congenital defects in humans are of greater concern, and in that line, cystic fibrosis (CF) has been one of the most complex diseases posing treatment challenge till date. Though it is a chronic condition, CF is closely associated with dysfunction of various organ systems of the human body, which in turn results in secondary infections by microbes. Decades of research by scientists worldwide has narrowed down the cause of CF to a single target gene. But the complexity of the disease is the prime impediment to finding a single-shot cure. Fortunately, the multidisciplinary approach toward understanding and management of the CF condition has certainly increased the level of life expectancy among CF patients. In particular, the "omics" and the "systems biology" approach have greatly widened the focal area for better understanding of the disease. This book includes a collection of interesting chapters contributed by eminent scientists around the world who have been striving to improve the life of those affected by CF.
Cystic fibrosis (CF), also known as munoviscidosis, is a chronic genetic disease involving the dysfunction of the exocrine glands. This dysfunction is manifested as a deficiency in pancreatic enzymes, accumulation of mucous in airways, and excess salt in sweat. Cystic fibrosis was previously restricted to infancy and childhood but developments in medical treatment and therapy have extended survival considerably. This book includes within its scope research aimed at understanding the genetic linkage in cystic fibrosis, as well as improving the diagnosis and treatment of this disease in both children and adults. Leading-edge scientific research from throughout the world is presented.
Cystic Fibrosis (CF) is the most common genetic disorder in the white population. Since the discovery of the CF gene in 1989, scientists have learned a great deal about the biology of this disease, which strikes one child in every 3.300 births. With the gene pinpointed, scientists are now working on ways to replace it and are developing better tests for early diagnosis. Understanding Cystic Fibrosis charts the progress that has been made in identifying the mutations that cause CF and in understanding how these genetic errors cause a disease whose symptoms can range from mild respiratory distress to life-threatening lung infections. This book features a review of current available treatments; research that can lead to therapies and perhaps a cure; advice and resources for families and patients; how to work best with health-care providers and HMOs; the history and diagnosis of CF; who gets CF and why; how CF affects the lungs, intestines, and other organs; and a list of organizations, support groups, and resources.
This book is for every individual with cystic fibrosis and their families, and for the caregivers, researchers, and the many volunteers who have helped to further progress in the treatment and understanding of this disease. This book is also for historians and those interested in the story of a voluntary health organization whose insightful leadership successfully grew effective, wide ranging programs and developed a strategy of collaboration with associated agencies and interests that made for efficient and dramatic progress.
Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild atypical case, presenting in middle age, with the potential for complications in virtually every system of the body. In the past few years there has been an explosion of knowledge of the basic science of the defect. The editors have therefore invited the leading scientists and clinicians in the field of cystic fibrosis to describe the recent advances in this disease. Although there are many 'Recent Advances' texts, previous books have been selective in their choice of topics. This book is the first to cover the entire field of this complex disease, and encompasses the rapidly moving topics of the basic molecular and cellular biology as well as the recent multi-system, multi-disciplinary advances in the clinical care of patients. The authors have been charged with writing only about new developments and not to rehash old literature. The bulk of the references is therefore less than five years old. This book addresses all professionals who treat cystic fibrosis and want to have an up-date of new findings in the field, particularly of those outside their immediate specialisation. It will also be useful for basic researchers interested in related scientific areas and the clinical context of their work.
This work is concerned with Cystic Fibrosis (CF), the most common fatal genetic disease in the Caucasian population. The decade of the 1980s was one of spectacular progress in understanding the genetic and molecu lar basis of CF. The research breakthroughs of the decade began with the first fundamental insights, published in 1981-1983, into the basic cellular pathophysiology of CF with demonstrations of altered ion transport in spe cialized exocrine epithelial tissues (1-3). Research progress shifted into a triumph of "reverse genetics," using restriction-fragment-Iength polymor phism DNA technology (4), with the localization of the CF gene to a region of chromosome 7 (5-7). Understanding, accelerated by an explOSion of in vitro methodologies for epithelial cell culture and transformation, allowed and physiological studies (8-11); these focused, controlled biochemical with increasing precision, on the molecular pathology of distal steps in the regulatory pathways for epithelial ion transport (12-19). Finally, the "end of the beginning" occurred in late 1989 with one of the great achievements of molecular genetics, the isolation and cloning of the CF gene (20). As a result, we now have a CF gene product, the cystic fibrosis transmembrane regulator (CFfR), possessing predicted amino acid sequence, suggested tertiary structure, and possible transmembrane transport function (21). These amazing developments have set the stage for the next round of advances, which surely will include: 1.
Cystic fibrosis, a genetic disorder in children and young adults, is a multisystemic disease that mainly affects the lungs. Advances and improvements in the diagnosis and management of this condition have led to increased overall and symptom-free survival in cystic fibrosis patients. This book examines recent advances in the field and presents an evidence-based approach to the management of cystic fibrosis.
Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.
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.