Preface

This book is designed as a source of practical information for the diagnosis and management of pediatric patients with endocrine diseases and inborn errors of metabolism. From its conception, Pediatric Endocrinology and Inborn Errors of Metabolism (PEIEM) was created with this dual purpose: to be both a comprehensive, clinically-focused medical reference for a broad audience from specialist nurses and general physicians to specialists in each discipline, and to be an information bridge providing inroads into the fundamental concepts of the two interrelated disciplines. The contributors and editorial team strove to make the chapters on inborn errors approachable by endocrinologists and the endocrine chapters approachable by metabolic specialists through what became the underlying precept of the textbook—explanation, not simplification. Following this paradigm, chapters first elucidate the mechanisms underlying a disorder and how they relate to the corresponding phenotypes through clinically relevant discussions of genetics and pathophysiology, thus framing the basis of disease; and second, provide complete and detailed discussions of clinical features, laboratory evaluations, treatment modalities, and follow-up management. Rather than simply listing signs and symptoms under the assumption that their occurrence within a disorder is always self-explanatory, PEIEM explains through the pathophysiology why and how these manifestations occur and how they can be approached, modified, or prevented. As a result of this step-wise approach, we hope that medical professionals at any level involved in caring for endocrine and metabolic patients will find this textbook a useful and comprehensive resource.

We are very grateful for the wide acceptance the first edition of PEIEM quickly achieved and are proud of recognition such as the Medical Book Award of the British Medical Association in 2010. In 2009, the New England Journal of Medicine review stated “it is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership.” It has quickly become an in-depth clinical reference resource for inborn errors of metabolism and pediatric endocrinology.

Since PEIEM’s release in 2009, huge advances of knowledge and important improvements in diagnostics as well as therapeutic approaches necessitated a second edition. This allowed the corrections of some errors of the first edition that maybe only authors and editors spotted, as well as the inclusion of additional disorders not covered previously and those that were recently identified. Following a stringent concept, it was still possible to provide even more detailed and clinically relevant information concerning presentation, diagnosis, and treatment of more than 700 disorders within a single volume. To achieve this goal, we had to address the question “What is the most pertinent information needed for the practicing physician to fully understand the etiology and pathophysiology of a disease in order to make informed decisions concerning the diagnosis and management of a patient?” To remain a single volume, we focused on describing disease pathogenesis, clinical presentation, and therapy, and where relevant, the most frequently recurring mutations in relation to phenotype, rather than lengthy discussions of a disorder’s historical background and itemized accounts of the discovery of each mutation, both of which can be found in many textbooks and established internet databases.

What is unique to this book and not easily found in other textbooks or on the internet is a single organized source that provides detailed information for the practicing physician concerning the pathophysiology, diagnosis, and management of both inborn errors of metabolism and endocrine disorders. By combining the two disciplines, a physician contemplating the differential diagnosis of a patient with hypoglycemia, for example, will need only one textbook to find full coverage of the potential underlying disorders (ie, hyperinsulinism, glycogen storage diseases, fatty acid oxidation disorders, adrenal insufficiency, and disorders of growth). As there can be many subtypes of a disorder, to assist in identifying the information you need quickly, disease-oriented chapters begin with the At-A-Glance page, a quick reference summary for easy access to the biochemical profile, presentation, occurrence rate, locus, etc., of the disorders covered in the chapter. Another important feature of this textbook that aids in the differential diagnosis is that many subtypes of disorders—even rare ones—covered within a chapter are individually discussed following a specific format. In most cases, each subtype of a disorder is structured in the following format: Etiology/Pathophysiology, Presentation, Diagnosis, and Treatment. Full descriptions of the etiology/pathophysiology of the overall disorder are aided by multiple graphics to show how the different enzymatic defects affect a pathway, rather than a single graphic with a multitude of defect markers. Thus, with PEIEM, the reader can readily and consistently find the information (s)he seeks. The structured format also has the added benefit of addressing the heterogeneity of contributors and writing styles created by any multi-author textbook.