Description
This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich’s ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.
Chapter
Diabetes and Genetic Defects Prevalently Involving the Pancreatic Beta Cells
Neonatal Diabetes: Permanent Neonatal Diabetes and Transient Neonatal Diabetes
Neonatal Diabetes Mellitus: An Introduction
Permanent Neonatal Diabetes Mellitus
Transient Neonatal Diabetes Mellitus
Maturity-Onset Diabetes of the Young: From Genetics to Translational Biology and Personalized Medicine
Etiopathogenic Characteristics of Maturity-Onset Diabetes of the Young
Overview of the MODY Genetic Subtypes
Evidence for Personalized Pharmacogenomic Medicine in MODY
Clinical Relevance of a Molecular Diagnosis for MODY
Next-Generation Sequencing as a Diagnostic Tool for MODY and Future Research Perspectives
Perspectives on Monogenic Diabetes Modelling: The New Era of Induced Pluripotent Stem Cell Biology
Conclusion and Future Perspectives
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes Mellitus in Mitochondrial Disease
Mitochondrial Biochemistry and Genetics
Pathogenesis of Mitochondrial Diabetes
Diabetic Phenotypes in Mitochondrial Disease
Pattern Recognition: Multisystem Involvement and Inheritance
Pattern Recognition: Diabetic Phenotype in Mitochondrial Disease
Diagnosis of Mitochondrial Diseases
Diabetic Screening in Mitochondrial Disease
Diabetes in Wolfram Syndrome: Update of Clinical and Genetic Aspects
Function of the WFS1 Gene
Type 1 Diabetes Mellitus in Monogenic Autoimmune Diseases
FOXP3 Gene and T-Regulatory Cells in Immunological Tolerance
FOXP3 Mutations Lead to IPEX Syndrome
Clinical and Immunological features of IPEX
IPEX and Type 1 Diabetes Mellitus
IPEX-Like Syndromes and Type 1 Diabetes Mellitus
Genetic and Immunological Features of Insulin-Dependent Diabetes Mellitus as a Clinical Manifestation of Type 1 Autoimmune Polyglandular Syndrome
Immunological Features of Type 1 Autoimmune Polyglandular Syndrome
Insulin-Dependent Diabetes Mellitus as a Clinical Manifestation in APS1
Genetic Factors Predisposing to Type 1 Diabetes in APS1 Patients
Extreme Insulin Resistance with Diabetes
Syndromes Associated with Mutations in the Insulin Signalling Pathway
Biochemical Diagnosis of Severe Insulin Resistance
General Clinical Features of Severe Insulin Resistance
Specific Monogenic Forms of Severe Insulin Resistance
Insulin Resistance and Diabetes Associated with Lipodystrophies
Clinical Classification of Lipodystrophies
Complications of Lipodystrophy
Specific Genetic Subtypes of Lipodystrophy
Complex Syndromes Associated with Lipodystrophy
Management of Lipodystrophy
Ciliopathies, Obesity, and Glucose Metabolism
Genetic and Molecular Mechanisms
Obesity, Metabolism, and Endocrinology
General Clinical Aspects and Miscellaneous
Chromosomal Defects and Diabetes
47,XXY Klinefelter Syndrome Is Associated with an Increased Risk of Insulin Resistance: The Impact of Hypogonadism and Visceral Obesity
Klinefelter Syndrome and Insulin Resistance
Klinefelter Syndrome and Diabetes Mellitus
Down Syndrome (Trisomy 21) and Diabetes
Pancreatic Histopathology
Clinical Presentation and Management
Conclusions and Perspectives
Turner Syndrome and Diabetes
Autoimmunity in Turner Syndrome
Glucose Homeostasis in Turner Syndrome
Diabetes in Turner Syndrome
Other Genetic Conditions with Increased Susceptibility to Diabetes
Diabetes in Friedreich Ataxia
Diabetes in Friedreich Ataxia
Genotype-Phenotype Correlations
Diabetes in Myotonic Dystrophy
Genetics and Pathogenesis
Diabetes in Myotonic Dystrophy
Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities
( Frontiers in Diabetes )
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