The Kidney - From Normal Development to Congenital Disease

Front Cover

The Kidney: From Normal Development to Congenital Disease

Copyright Page

Contents

Contributors

Foreword

Preface

Section I: Embryonic Kidneys and Models

Chapter 1. Introduction: Embryonic Kidneys and Other Nephrogenic Models

Chapter 2. Development of Malpighian Tubules in Drosophila Melanogaster

I. Introduction

II. Tubule Development and the Genes That Regulate It

III. Generating Cells: Regulation of Cell Proliferation in the Tubule Primordia

IV. Morphogenetic Movements

V. Onset of Physiological Activity

Chapter 3. Induction, Development, and Physiology of the Pronephric Tubules

I. Introduction

II. Tubule Fate and Origins

III. Pronephric Induction

IV. Pronephric Tubule Anatomy

V. Morphogenesis

VI. Pronephric Function and Physiology

VII. Degeneration or Function Diversion of the Pronephros

VIII. Pronephric Tubules as a Model for Tubulogenesis?

Chapter 4. Formation of the Nephric Duct

I. Introduction

II. Nephric Duct Morphogenesis

III. Conclusions

References

Chapter 5. The Pronephric Glomus and Vasculature

I. Introduction

II. Development of the Pronephric Glomus: Stages of Glomerular Development in Frogs and Fish

III. Gene Expression and Function in Pronephric Glomerular Development

IV. Summary: Future Prospects

Chapter 6. Development of the Mesonephric Kidney

I. Introduction

II. Mesonephric Development: An Anatomical Overview

III. Molecular Basis of Mesonephric Development

IV. Mesonephric Contribution to Gonadal Differentiation

V. Mesonephric Contribution to Other Organ Systems

VI. Summary

References

Chapter 7. Three-Dimensional Anatomy of Mammalian Mesonephroi

I. Introduction

II. Material

III. Three-Dimensional Reconstruction

IV. Human Mesonephric Development

V. Murine Mesonephric Development

VI. Conclusions

References

Chapter 8. Molecular Control of Pronephric Development: An Overview

I. Introduction

II. Transcription Factors Implicated in Development of the Pronephros

III. Growth Factors in Pronephric Kidney Development

IV. Conclusions and Further Perspectives

Reference

Chapter 9. Embryological, Genetic, and Molecular Tools for Investigating Embryonic Kidney Development

I. Introduction

II. Molecular Embryology

III. Cellular Embryology

IV. Transgenic Methods

V. Classical Genetic Methods: Mutant Screens

References

Section II: The Adult Kidney

Chapter 10. The Metanephros

I. Introduction

II. Development of the Metanephros

III. Growth

IV. Investigating Regulatory Networks

V. Unsolved Problems of Kidney of Development

References

Chapter 11. Anatomy and Histology of the Human Urinary System

I. Gross Anatomy of the Urinary System

II. Microanatomy of the Urinary System

References

Chapter 12. Development of the Ureteric Bud

I. Introduction

II. Induction of Ureteric Bud Formation

III. Anatomy of Ureteric Bud Arborization

IV. Mechanisms of Ureteric Bud Arborization

V. Integration of Influences

VI. Engines of Morphological Change

VII. Differentiation within the Maturing Collecting Duct

VIII. Some Outstanding Problems

References

Chapter 13. Fates of the Metanephric Mesenchyme

I. Summary

II. Introduction

III. Early Stages of Kidney Formation

IV. Cell Types Derived from Metanephric Mesenchyme

V. Experimental Analysis of Metanephric Mesenchyme Differentation

VI. How Many Cell Types Are Present in the Metanephric Blastema?

References

Chapter 14. Formation and Development of Nephrons

I. Introduction

II. Morphogenesis

III. Induction

IV. Intrinsic Factors That Control the Induction Response

V. Factors That Drive Mesenchyme-to-Epithelial Conversion

VI. Summary

References

Chapter 15. Establishment of Polarity in Epithelial Cells of the Developing Nephron

I. Summary

II. Introduction

III. Acquisition of Epithelial Polarity

IV. Structural Organization

V. Physiological and Biochemical Organization

VI. Establishment and Maintenance of Epithelial Cell Polarity

VII. Protein Trafficking in Embryonic Kidney

VIII. A Final Comment

References

Chapter 16. Development of the Glomerular Capillary and Its Basement Membrane

I. Introduction

II. Glomerular Structure

III. Glomerular Filtration Barrier

IV. Glomerular Basement Membrane Proteins

V. Unique Features of Podocytes

VI. Glomerulogenesis

VII. Glomerular Defects

VIII. Closing Remarks

References

Chapter 17. Development of Kidney Blood Vessels

I. Introduction

II. Blood Vessel Formation in the Embryo

III. Anatomy of Kidney Blood Vessels

IV. Experiments that Address the Origins of Metanephric Blood Vessels

V. Growth Factor and Embryonic Kidney Vessel Development

VI. Other Molecules Involved in Vascular Growth

VII. Conclusions and Perspectives

References

Chapter 18. Development of Function in the Metanephric Kidney

I. Introduction

II. Methods to Study Developmental Renal Physiology

III. Development and Regulation of Renal Blood Flow

IV. Development and Regulation of Glomerular Filtration

V. Ontogeny of Tubular Function

VI. Summary

References

Chapter 19. Experimental Methods for Studying Urogenital Development

I. Introduction

II. Tissue Dissection and Separation

III. Culturing Metanephric Kidney Rudiments

IV. Tissue Analysis

V. In Situ Hybridization of mRNA

References

Chapter 20. Overview: The Molecular Basis of Kidney Development

I. Introduction

II. Specification of Nephrogenic Mesenchyme

III. Cell Survival

IV. Mesenchymal Condensation

V. Proliferation

VI. Branching of the Ureteric Bud

VII. Mesenchyme-to-Epithelial Transition

VIII. Proximal/Distal Patterning

IX. Glomerulogenesis

X. Vascularization

XI. Cell Polarity

XII. Future of the Field

References

Section III: Congenital Disease

Chapter 21. Maldevelopment of the Human Kidney and Lower Urinary Tract: An Overview

I. Normal Development of Human Kidney and Lower Urinary Tract

II. Varied Phenotypes of Human Kidney and Lower Urinary Tract Maldevelopment

III. Causes of Maldevelopment of Human Kidney and Lower Urinary Tract

References

Chapter 22. WT1-Associated Disorders

I. Introduction

II. The WT1 Gene

III. WT1 and Development

IV. WT1 and Wilms’ Tumor

V. WT1 and Other Malignancies

VI. WT1and Denys–Drash Syndrome

VII. WT1 and Isolated Diffuse Mesangial Sclerosis

VIII. WT1 and Frasier Syndrome

IX. WT1 Intronic Mutation (Frasier Mutation) in 46,XX Females and in Primary Steroid–Resistant Nephrotic Syndrome

X. Conclusions

References

Chapter 23. PAX2 and Renal-Coloboma Syndrome

I. Introduction

II. Pathologic Analysis of Renal-Coloboma Syndrome and Oligomeganephronia

III. Molecular Analysis of the PAX2 Gene and Its Involvement in Renal-Coloboma Syndrome

IV. Animal Models to Investigate PAX2 Function

V. What Is the Function of PAX2 in Kidney Development?

VI. Summary

References

Chapter 24. Cystic Renal Diseases

I. Human Clinical Disease Impact

II. Molecular Genetics of Human Renal Cystic Diseases

III. Animal Models and the Pathogenesis of Polycystic Kidney Diseases

IV. General Mechanisms Underlying Cystogenesis and the Function of Proteins Causing Polycystic Kidney Disease

V. Summary

References

Chapter 25. Renal Cell Carcinoma: The Human Disease

I. Phenotypic Diversity of Renal Cell Carcinoma (RCC)

II. Molecular Genetics of RCC

III. The von Hippel–Lindau Tumor Suppressor Gene

IV. TSC-2 Tumor Suppressor Gene

V. c-met

VI. Other Genes Involved in RCC

VII. Animal Models for RCC

References

Chapter 26. The Tubule

I. Introduction

II. Proximal Tubulopathies

III. Defects of the Thick Ascending Limb and Distal Tubule

IV. Disorders of the Amiloride-Sensitive Epithelial Sodium Channel

V. Disorders of the Collecting Dust

VI. Conclusions

References

Chapter 27. Diseases of the Glomerular Filtration Barrier: Alport Syndrome and Congenital Nephrosis (NPHS1)

I. Alport Syndrome

II. Congenital Nephrosis NPHS1

III. Conclusions

References

Chapter 28. Congenital Kidney Diseases: Prospects for New Therapies

I. Introduction

II. Gene Transfer Technologies

III. Renal Precursor Cell Technology

IV. Experimental Treatments for Polycystic Kidney Diseases

References

Index