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The Genetic Basis of Common Diseases
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Richard A. King, Jerome I. Rotter, and Arno G. Motulsky. 978 pages. New York: Oxford University Press; 1992. $145.00.
In the 1990s, the view that "all disease is genetic" seems less and less an extreme position. Awareness of the importance of genes to both cause and pathogenesis is increasing in all medical specialties. Once a narrow field practiced by a few academic pediatricians and internists, medical genetics is now a specialty of the American Board of Medical Specialties in its own right, a required discipline for medical students, an area of active commercialization, and a regular component of continuing education programs. Internists must stay abreast of this burgeoning field for at least two reasons. First, patients with chromosome aberrations (for example, the Down syndrome) and disorders caused by mutations in single genes (for example, inborn errors of metabolism such as phenylketonuria, homocystinuria, and Gaucher disease; connective tissue disorders such as the Marfan syndrome; transport disorders such as cystic fibrosis and cystinuria; and the hemoglobinopathies) routinely survive adolescence and require the long-term care of an internist. Second, and ultimately much more important, researchers are increasingly dissecting the genetic components of the disorders traditionally the province of internal medicine. The Genetic Basis of Common Diseases addresses this latter category for the first time in a comprehensive text. Future generations of physicians may look back at the first edition of this book much the way we now perceive Osler's Principles and Practice of Medicine, initially published in 1892—as the first in a long line of episodic revisions that acquired many competitors along the way. Then again, even the next generation might find such hard-bound compendiums anachronistic. For now, this new work stands alone and is a worthy addition to the literature of internal medicine.
This is not to say the book contains no problems of which the potential purchaser and reader should be aware. This multiauthor book (67 authors for 46 chapters) had a long gestation; some chapters were completed several years before others, and updated manuscripts are never as satisfactory (for readers or authors) as a timely, comprehensive exposition. The organization is inconsistent; some chapters cover an organ (such as the thyroid or liver), whereas others present a broad sweep (such as infectious diseases or autoimmunity) or focus on specific diseases (such as gluten-sensitive enteropathy). The scope and breadth of coverage is also inconsistent: Allergy and coronary atherosclerosis are each given the same amount of space as the Turner syndrome; diabetes mellitus gets four times as much; and abdominal aortic aneurysm (for which there is considerable evidence of genetic predisposition), peripheral atherosclerosis, venous occlusive diseases, and the eye are not discussed at all. Finally, these chapters were written just at the beginning of an exponential growth of knowledge in nearly all cases. The lack of timeliness in publication (the most recent references are from 1989 to 1990) and the major advances in molecular medicine have made the discussions of Alzheimer disease, hypertrophic cardiomyopathy, hypertension, osteoporosis, immunogenetics, and neoplasia, generally, and tumors, specifically, useful primarily as historical resources.
The chapter on genetics and infectious diseases by Childs, Moxon, and Winkelstein is a real gem. It concludes with a fitting epilogue for the entire text. "The reader who has persisted thus far may reasonably ask for some practical pay-off ... in diagnosis, prognosis, treatment, or counseling. It may not suffice merely to be aware that the genes are everywhere involved in specifying the molecules of which all homeostatic systems are composed and that genetic variation underlies differential susceptibility to infection." For the field of internal medicine, this uncertainty is being addressed and the promise is beginning to be realized.
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