Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Hematologic, Renal, and Immunologic Disorders

7th Edition - August 25, 2022
Editors: Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody
Language: English
Hardback ISBN:
9 7 8 - 0 - 1 2 - 8 1 2 5 3 4 - 2
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 1 2 6 8 2 - 0

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical geneti… Read more

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions.

With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.

Cover image
Title page
Table of Contents
Copyright
List of contributors
Preface to the seventh edition of emery and Rimoin's principles and practice of medical genetics and genomics
Preface to hematologic, renal, and immunologic disorders
Part I. Renal Disorders
1. Congenital Anomalies of the Kidney and Urinary Tract
1.1. Introduction
1.2. Clinical Manifestations of CAKUT
1.3. Familial CAKUT
1.4. Spectrum of CAKUT Phenotypes
1.5. Syndromic CAKUT
1.6. Diagnosis of CAKUT
1.7. Embryonic Development of the Kidney and Urinary Tract
1.8. Pathogenesis of CAKUT
1.9. Disease Causation in CAKUT
1.10. Genetic Features Characteristic of CAKUT
1.11. Mouse Models of CAKUT
1.12. Molecular Pathways in CAKUT Pathogenesis
2. Cystic Diseases of the Kidney
2.1. Introduction
2.2. Autosomal Dominant Polycystic Kidney Disease (MIM 173900)
2.3. Autosomal Recessive Polycystic Kidney Disease (MIM 263200)
2.4. Familial Nephronophthisis
2.5. Autosomal Dominant Tubulointerstitial Kidney/Medullary Cystic Kidney Disease
2.6. Multicystic Dysplastic Kidney Disease (MCDK)
2.7. Genetic Syndromes with Cystic Renal Disease as a Major Component
2.8. Mechanisms of Cystogenesis
3. Nephrotic Disorders
3.1. Introduction
3.2. Glomerular Filtration Barrier
3.3. Nephrin Gene (NPHS1) Mutations
3.4. Podocin Gene (NPHS2) Pathogenic Variants
3.5. Wilms Tumor Suppressor Gene (WT1) Pathogenic Variants
3.6. Phospholipase ε1gene (PLCE1) Mutations
3.7. Laminin-β2 Gene (LAMB2) Mutations
3.8. Inverted Formin 2 Gene (INF2) Pathogenic Variants
3.9. Transient Receptor Potential C6 Ion Channel Gene (TRPC6) Pathogenic Variants
3.10. Type IV Collagen Gene (COL4A3-5) Pathogenic Variants
3.11. Mutations in Genes Encoding Mitochondrial Proteins
3.12. Rare Genetic Disorders of the SD Complex
3.13. Rare Genetic Disorders of the Actin Network
3.14. Mutations in Podocyte Nuclear Proteins
3.15. Polymorphic Gene Variants in NS
3.16. Diagnosis of NS
3.17. Management of Patients with Nephrotic Syndrome
3.18. Conclusions
4. Renal Tubular Disorders
4.1. Introduction
4.2. Generalized Disorders of Tubular Function (Fanconi Syndrome)
4.3. Disorders of Amino Acid Transport
4.4. Glycine and the Imino Acids
4.5. Dibasic Amino Acids and Cystine
4.6. Cystinosis
4.7. Other Forms of Dibasic Aminoaciduria
4.8. Neutral Amino Acids
4.9. Renal Tubular Acidosis
4.10. Proximal Renal Tubular Acidosis (Type 2 RTA)
4.11. Lowe Oculocerebrorenal Syndrome
4.12. Distal Renal Tubular Acidosis (Type I RTA)
4.13. Distal Renal Tubular Acidosis With Neural Hearing Loss (Type 2 RTA)
4.14. Distal Renal Tubular Acidosis With or Without Deafness (Type 3 DRTA)
4.15. Carbonic Anhydrase II Deficiency
4.16. Disorders of Sugar Transport
4.17. Renal Glycosuria
4.18. Fructosuria
4.19. Pentosuria
4.20. Hypophosphatemic Rickets
4.21. Important Areas of Current and Future Research
4.22. Conclusion
5. APOL1-Associated Kidney Disease
5.1. Introduction
5.2. APOL1-Associated Nephropathies
5.3. Human Genetics, Trypanolysis, and APOL1
5.4. The APOL1 Gene and Protein
5.5. APOL1 Function and Effect of Variants
5.6. Recessive but Gain of Function
5.7. Models of APOL1-Associated Disease
5.8. Nonkidney Phenotypes
5.9. APOL1 Second Hits: Genes and/or Environment
5.10. Clinical Implications
5.11. APOL1 and Kidney Transplantation
5.12. APOL1 in the Clinic
5.13. Racial Disparities in Kidney Disease
Part II. Hematologic Disorders
6. Hemoglobinopathies and Thalassemias
6.1. Introduction
6.2. Hemoglobin Genetics
6.3. Normal Human Hemoglobin
6.4. Human Hemoglobin Variants
6.5. Sickle Cell Disease and Related Disorders
6.6. Unstable Hemoglobin Variants
6.7. Hemoglobin Variants With Altered Oxygen Affinity
6.8. Thalassemias
7. Disorders of Hemostasis and Thrombosis
7.1. Overview of Hemostasis and Thrombosis
7.2. The Coagulation Cascade
7.3. Inherited Disorders Predisposing to Thrombosis
7.4. Interactions Among Multiple Genetic Defects
8. Amyloidosis and Other Protein Deposition Diseases
8.1. Introduction
8.2. Hereditary Systemic Amyloidosis
8.3. Clinical Variations in FAP
8.4. Genetics
8.5. Other Systemic Amyloidoses
8.6. Diagnosis
8.7. Management
8.8. Alzheimer Disease
8.9. Gerstmann–StrÄussler–Scheinker Disease
8.10. British Dementia
8.11. Corneal Dystrophies
8.12. Other Localized Amyloidoses
8.13. Conclusion
9. Leukemias, Lymphomas, and Plasma Cell Disorders
9.1. Introduction
9.2. Myeloproliferative Neoplasms
9.3. Myelodysplastic Syndromes
9.4. Acute Myeloid Leukemia
9.5. Therapy-Related Myeloid Neoplasms
9.6. Clonal Hematopoiesis
9.7. Acute Lymphoblastic Leukemia
9.8. Mature B Cell Neoplasms
Acknowledgments
Part III. Immunologic Disorders
10. Inherited Complement Deficiencies
10.1. Introduction
10.2. Introduction to the Complement System
10.3. The Classical Pathway
10.4. The Alternative Pathway
10.5. The Lectin Activation Pathway
10.6. The Membrane Attack Complex
10.7. Regulation of Complement Activation
10.8. Inherited Complement Deficiencies
10.9. Management of Complement Deficiencies
11. Heritable and Polygenic Inflammatory Disorders
11.1. Introduction
11.2. Autoimmunity
11.3. The Immune Response
11.4. Genetics of Autoimmune Diseases
11.5. HLA Allelic Diversity and Population Genetics
11.6. Genetic Susceptibility to Autoimmune Disease
11.7. HLA and Other Genotypes
11.8. Rheumatoid Arthritis
11.9. Seronegative Spondyloarthropathies
11.10. Spondyloarthritides
11.11. Ankylosing Spondylitis
11.12. Reactive Arthritis (Previously Reiter Syndrome)
11.13. Enteropathic Arthritis
11.14. Psoriasis and Psoriatic Arthritis
11.15. Juvenile Idiopathic Arthritis
11.16. Systemic-Onset JIA (Still Disease)
11.17. Oligoarticular JIA
11.18. Polyarticular JIA
Index

Reed E. Pyeritz

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.

Affiliations and expertise

William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA

Bruce R. Korf

Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Affiliations and expertise

Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL, USA

Wayne W. Grody

Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, and is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS, CDC, NIH-DOE Human Genome Project (ELSI program), and PSRGN. He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. Most recently, he was appointed chair of an Advisory Committee on Genomic Medicine for the entire VA healthcare system. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).

Affiliations and expertise

Professor, Divisions of Medical Genetics and Molecular Diagnostics, Departments of Path. and Lab. Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Director, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, CA, USA

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Hematologic, Renal, and Immunologic Disorders

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Reed E. Pyeritz

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Wayne W. Grody