Book Review

Cystic Fibrosis in the 21st Century

N Engl J Med 2006; 354:1967-1969May 4, 2006

Article

Cystic Fibrosis in the 21st Century
(Progress in Respiratory Research. Vol. 34.) Edited by Andrew Bush, Eric W.F.W. Alton, Jane C. Davies, Uta Griesenbach, and Adam Jaffe. 329 pp., illustrated. Basel, Switzerland, Karger, 2006. $180. ISBN: 3-8055-7960-8

More than six decades have passed since the first description of cystic fibrosis as a deadly childhood disease of the pancreas. Since then, it has been recognized as one of the most common fatal recessive diseases among white persons, usually diagnosed during the first years of life and characterized primarily by pulmonary and gastrointestinal symptoms. Over the years, patients, caregivers, and scientists worldwide have shared their experiences, knowledge, and resources in an effort to extend the lives of persons with cystic fibrosis. As a consequence, progress has been made: children with cystic fibrosis are living into adulthood, bearing their own children, and pursuing careers — all of which were once unexpected outcomes. Nevertheless, according to the patient registry of the Cystic Fibrosis Foundation, the median survival is only about 35 years.

Keeping abreast of relevant research on cystic fibrosis is a challenge, given the pace of research and the tens of thousands of papers and nearly 150 books on topics related to this disease that have been published to date. In the preface to Cystic Fibrosis in the 21st Century, the editors recognize “a need for a concise and up-to-date summary of the current knowledge in all the various areas in which the study of [cystic fibrosis] is being pushed forward.” Have they succeeded? It depends on whom you ask.

Cystic Fibrosis in the 21st Century is an attractive book consisting of 40 brief chapters, each supported to varying degrees by figures, tables, and photographs. The text was edited by five London-based experts in cystic fibrosis who asked the contributing authors to cite mainly recent literature and not to review extensively “valuable, but older work.” Authors were also instructed to make their contributions understandable to those outside their own disciplines in the field of cystic fibrosis, while still addressing those within the broad field. To achieve success, the editors needed to consider the wide range of complexity in the chapters' topics and to help gauge the assumed background knowledge of readers against what the authors themselves should provide. The authors, most of whom are based in the United Kingdom and some of whom are world-renowned for their expertise in cystic fibrosis, vary considerably in how much prior knowledge they assume and how much background they provide.

The six parts of the book span the genetic and molecular basis of cystic fibrosis, the pathogenesis of the disease, the care of airways and other organs affected in the disease, and problems relevant to multidisciplinary care teams. Within this mine of information are gems that illuminate the background, cover the subject in a balanced, well-referenced manner, and point out gaps in basic knowledge.

Outstanding chapters include the one on the structure of the cystic fibrosis transmembrane conductance regulator (CFTR), which provides an excellent, up-to-date summary of a fundamental but complex topic and mentions the important related field of CFTR and structure-based therapeutics that is now on the horizon. Other chapters discuss the function of the CFTR protein and ion transport, in an elegantly written chapter on one of the primary functions of CFTR and the only chapter to include a much-needed glossary; animal models, in a thorough, unbiased presentation of the strengths and deficiencies of this field; new pharmacologic approaches for the treatment of cystic fibrosis, in an excellent, carefully referenced discourse on drug discovery related to cystic fibrosis that should bring hope to caregivers and patients; and challenges for nurses, in an outstanding, comprehensive description of the nurse's role in the care of patients with cystic fibrosis. Additional highlights include chapters on diagnosis, infection versus inflammation, current and novel antimicrobial agents, in vitro and in vivo assays of CFTR function, gut disease, dietetics, and psychological interventions. Other chapters fall short, in part because they misjudge the amount of background necessary in the target audience.

Key technical chapters in the first part of the book, entitled “The Basics,” are comprehensive and heavily referenced but insufficiently illustrated to drive home their points. Among the chapters in other parts of the book in which gross pathology or histology is shown, more photographs of control, nondiseased organs would have been useful for comparison.

Some important conceptual weaknesses require mention. Several chapters in part 2, entitled “The Airway,” give superficial and selective treatment to advances in their fields. These chapters may be weighted toward the contributors' own work or hypotheses and thus do not present broad concepts of airway disease in cystic fibrosis. Other chapters in this part fail to identify controversial issues or acknowledge seminal works. Although the savvy reader will detect these omissions, the uninitiated will probably suffer from the biased presentation. Other timely topics one might have expected to see that are not discussed include the use of hypertonic saline as an airway therapy, the importance and challenges of clinical trials in cystic fibrosis, and the economics of care for patients with this disease.

Less important weaknesses result from patchy editing and proofreading, including multiple typographic errors, repeated passages, and figures and legends in which the symbols do not match. Finally, the index is not comprehensive. And although the chapters are consecutively numbered in the table of contents, they are not numbered in the chapter headings.

These weaknesses notwithstanding, the book is enjoyable and provocative, particularly the discussion of CFTR in fetal development; the chapter on the future suggests that some therapeutic approaches could fail if a mutant CFTR gene were to have developmental effects that have been overlooked. Negative aspects of living longer with cystic fibrosis are also considered, including a longer time in which new manifestations of the disease can develop or the development of problems secondary to long-term use of standard medications.

In summary, this book should be of value to health care professionals in the field of cystic fibrosis and seasoned investigators boning up on areas of interest or filling gaps in their knowledge. Since the chapters vary in comprehensiveness and the extent of background they provide, this book may be less useful to investigators entering the field of cystic fibrosis and the medical community in general than to specialists in this disease.

Melissa A. Ashlock, M.D.
Cystic Fibrosis Foundation Therapeutics, Bethesda, MD 20814