Vize / Woolf / Bard The Kidney

From Normal Development to Congenital Disease
1. Auflage 2003
ISBN: 978-0-08-052154-1
Verlag: Elsevier Science & Techn.
Format: EPUB
Kopierschutz: Adobe DRM (»Systemvoraussetzungen)

E-Book, Englisch, 592 Seiten

Organogenesis of the kidney has been intensely studied for over a century. In recent years advances in molecular techniques have not only made great inroads into exploring the genetic regulation of this complex process but also began to unravel the molecular basis of many forms of congenital kidney disease. This book is a comprehensive study on these findings and the only book available with such in depth coverage of the kidney. - Hundreds of color figures depicting key events in all aspects of kidney development - Full coverage of the genetic and cellular basis of kidney development - Analysis of the genetic basis of the major congenital kidney diseases

Autoren/Hrsg.

Vize, Peter D.

Woolf, Adrian S.

Bard, Jonathan B. L.

Inhaltsverzeichnis

1;Front Cover;1
2;The Kidney: From Normal Development to Congenital Disease;4
3;Copyright Page;5
4;Contents;6
5;Contributors;10
6;Foreword;12
7;Preface;14
8;Section I: Embryonic Kidneys and Models;16
8.1;Chapter 1. Introduction: Embryonic Kidneys and Other Nephrogenic Models;16
8.2;Chapter 2. Development of Malpighian Tubules in Drosophila Melanogaster;22
8.2.1;I. Introduction;22
8.2.2;II. Tubule Development and the Genes That Regulate It ;24
8.2.3;III. Generating Cells: Regulation of Cell Proliferation in the Tubule Primordia;26
8.2.4;IV. Morphogenetic Movements;28
8.2.5;V. Onset of Physiological Activity;29
8.3;Chapter 3. Induction, Development, and Physiology of the Pronephric Tubules;34
8.3.1;I. Introduction;34
8.3.2;II. Tubule Fate and Origins;34
8.3.3;III. Pronephric Induction;38
8.3.4;IV. Pronephric Tubule Anatomy;44
8.3.5;V. Morphogenesis;53
8.3.6;VI. Pronephric Function and Physiology;57
8.3.7;VII. Degeneration or Function Diversion of the Pronephros ;61
8.3.8;VIII. Pronephric Tubules as a Model for Tubulogenesis?;62
8.4;Chapter 4. Formation of the Nephric Duct;66
8.4.1;I. Introduction;66
8.4.2;II. Nephric Duct Morphogenesis;67
8.4.3;III. Conclusions;73
8.4.4;References;74
8.5;Chapter 5. The Pronephric Glomus and Vasculature;76
8.5.1;I. Introduction;76
8.5.2;II. Development of the Pronephric Glomus: Stages of Glomerular Development in Frogs and Fish ;81
8.5.3;III. Gene Expression and Function in Pronephric Glomerular Development ;84
8.5.4;IV. Summary: Future Prospects;86
8.6;Chapter 6. Development of the Mesonephric Kidney;90
8.6.1;I. Introduction;90
8.6.2;II. Mesonephric Development: An Anatomical Overview ;90
8.6.3;III. Molecular Basis of Mesonephric Development;94
8.6.4;IV. Mesonephric Contribution to Gonadal Differentiation ;96
8.6.5;V. Mesonephric Contribution to Other Organ Systems ;98
8.6.6;VI. Summary;99
8.6.7;References;99
8.7;Chapter 7. Three-Dimensional Anatomy of Mammalian Mesonephroi;102
8.7.1;I. Introduction;102
8.7.2;II. Material;102
8.7.3;III. Three-Dimensional Reconstruction;103
8.7.4;IV. Human Mesonephric Development;103
8.7.5;V. Murine Mesonephric Development;104
8.7.6;VI. Conclusions;105
8.7.7;References;107
8.8;Chapter 8. Molecular Control of Pronephric Development: An Overview;108
8.8.1;I. Introduction;108
8.8.2;II. Transcription Factors Implicated in Development of the Pronephros ;109
8.8.3;III. Growth Factors in Pronephric Kidney Development ;118
8.8.4;IV. Conclusions and Further Perspectives;124
8.8.5;Reference;128
8.9;Chapter 9. Embryological, Genetic, and Molecular Tools for Investigating Embryonic Kidney Development;134
8.9.1;I. Introduction;134
8.9.2;II. Molecular Embryology;134
8.9.3;III. Cellular Embryology;138
8.9.4;IV. Transgenic Methods;142
8.9.5;V. Classical Genetic Methods: Mutant Screens ;144
8.9.6;References;148
9;Section II: The Adult Kidney;154
9.1;Chapter 10. The Metanephros;154
9.1.1;I. Introduction;154
9.1.2;II. Development of the Metanephros;154
9.1.3;III. Growth;158
9.1.4;IV. Investigating Regulatory Networks;160
9.1.5;V. Unsolved Problems of Kidney of Development;160
9.1.6;References;162
9.2;Chapter 11. Anatomy and Histology of the Human Urinary System;164
9.2.1;I. Gross Anatomy of the Urinary System;164
9.2.2;II. Microanatomy of the Urinary System;170
9.2.3;References;179
9.3;Chapter 12. Development of the Ureteric Bud;180
9.3.1;I. Introduction;180
9.3.2;II. Induction of Ureteric Bud Formation;182
9.3.3;III. Anatomy of Ureteric Bud Arborization;183
9.3.4;IV. Mechanisms of Ureteric Bud Arborization;184
9.3.5;V. Integration of Influences;188
9.3.6;VI. Engines of Morphological Change;189
9.3.7;VII. Differentiation within the Maturing Collecting Duct ;190
9.3.8;VIII. Some Outstanding Problems;190
9.3.9;References;191
9.4;Chapter 13. Fates of the Metanephric Mesenchyme;196
9.4.1;I. Summary;196
9.4.2;II. Introduction;196
9.4.3;III. Early Stages of Kidney Formation;197
9.4.4;IV. Cell Types Derived from Metanephric Mesenchyme ;198
9.4.5;V. Experimental Analysis of Metanephric Mesenchyme Differentation;202
9.4.6;VI. How Many Cell Types Are Present in the Metanephric Blastema?;204
9.4.7;References;206
9.5;Chapter 14. Formation and Development of Nephrons;210
9.5.1;I. Introduction;210
9.5.2;II. Morphogenesis;211
9.5.3;III. Induction;211
9.5.4;IV. Intrinsic Factors That Control the Induction Response;216
9.5.5;V. Factors That Drive Mesenchyme-to-Epithelial Conversion;218
9.5.6;VI. Summary;222
9.5.7;References;223
9.6;Chapter 15. Establishment of Polarity in Epithelial Cells of the Developing Nephron;226
9.6.1;I. Summary;226
9.6.2;II. Introduction;226
9.6.3;III. Acquisition of Epithelial Polarity;227
9.6.4;IV. Structural Organization;227
9.6.5;V. Physiological and Biochemical Organization;229
9.6.6;VI. Establishment and Maintenance of Epithelial Cell Polarity ;230
9.6.7;VII. Protein Trafficking in Embryonic Kidney;233
9.6.8;VIII. A Final Comment;234
9.6.9;References;234
9.7;Chapter 16. Development of the Glomerular Capillary and Its Basement Membrane;236
9.7.1;I. Introduction;236
9.7.2;II. Glomerular Structure;236
9.7.3;III. Glomerular Filtration Barrier;238
9.7.4;IV. Glomerular Basement Membrane Proteins;239
9.7.5;V. Unique Features of Podocytes;243
9.7.6;VI. Glomerulogenesis;245
9.7.7;VII. Glomerular Defects;256
9.7.8;VIII. Closing Remarks;258
9.7.9;References;258
9.8;Chapter 17. Development of Kidney Blood Vessels;266
9.8.1;I. Introduction;266
9.8.2;II. Blood Vessel Formation in the Embryo;267
9.8.3;III. Anatomy of Kidney Blood Vessels;267
9.8.4;IV. Experiments that Address the Origins of Metanephric Blood Vessels;271
9.8.5;V. Growth Factor and Embryonic Kidney Vessel Development ;274
9.8.6;VI. Other Molecules Involved in Vascular Growth ;277
9.8.7;VII. Conclusions and Perspectives;278
9.8.8;References;278
9.9;Chapter 18. Development of Function in the Metanephric Kidney;282
9.9.1;I. Introduction;282
9.9.2;II. Methods to Study Developmental Renal Physiology;283
9.9.3;III. Development and Regulation of Renal Blood Flow ;284
9.9.4;IV. Development and Regulation of Glomerular Filtration ;291
9.9.5;V. Ontogeny of Tubular Function;293
9.9.6;VI. Summary;320
9.9.7;References;321
9.10;Chapter 19. Experimental Methods for Studying Urogenital Development;342
9.10.1;I. Introduction;342
9.10.2;II. Tissue Dissection and Separation;342
9.10.3;III. Culturing Metanephric Kidney Rudiments ;345
9.10.4;IV. Tissue Analysis;349
9.10.5;V. In Situ Hybridization of mRNA;350
9.10.6;References;357
9.11;Chapter 20. Overview: The Molecular Basis of Kidney Development;358
9.11.1;I. Introduction;358
9.11.2;II. Specification of Nephrogenic Mesenchyme;358
9.11.3;III. Cell Survival;362
9.11.4;IV. Mesenchymal Condensation;368
9.11.5;V. Proliferation;369
9.11.6;VI. Branching of the Ureteric Bud;371
9.11.7;VII. Mesenchyme-to-Epithelial Transition;376
9.11.8;VIII. Proximal/Distal Patterning;380
9.11.9;IX. Glomerulogenesis;380
9.11.10;X. Vascularization;383
9.11.11;XI. Cell Polarity;383
9.11.12;XII. Future of the Field;384
9.11.13;References;385
10;Section III: Congenital Disease;392
10.1;Chapter 21. Maldevelopment of the Human Kidney and Lower Urinary Tract: An Overview;392
10.1.1;I. Normal Development of Human Kidney and Lower Urinary Tract ;392
10.1.2;II. Varied Phenotypes of Human Kidney and Lower Urinary Tract Maldevelopment ;396
10.1.3;III. Causes of Maldevelopment of Human Kidney and Lower Urinary Tract ;398
10.1.4;References;403
10.2;Chapter 22. WT1-Associated Disorders;410
10.2.1;I. Introduction;410
10.2.2;II. The WT1 Gene;411
10.2.3;III. WT1 and Development;412
10.2.4;IV. WT1 and Wilms’ Tumor;413
10.2.5;V. WT1 and Other Malignancies;415
10.2.6;VI. WT1and Denys–Drash Syndrome;415
10.2.7;VII. WT1 and Isolated Diffuse Mesangial Sclerosis ;417
10.2.8;VIII. WT1 and Frasier Syndrome;418
10.2.9;IX. WT1 Intronic Mutation (Frasier Mutation) in 46,XX Females and in Primary Steroid–Resistant Nephrotic Syndrome ;419
10.2.10;X. Conclusions;420
10.2.11;References;421
10.3;Chapter 23. PAX2 and Renal-Coloboma Syndrome;426
10.3.1;I. Introduction;426
10.3.2;II. Pathologic Analysis of Renal-Coloboma Syndrome and Oligomeganephronia;427
10.3.3;III. Molecular Analysis of the PAX2 Gene and Its Involvement in Renal-Coloboma Syndrome ;431
10.3.4;IV. Animal Models to Investigate PAX2 Function ;439
10.3.5;V. What Is the Function of PAX2 in Kidney Development?;442
10.3.6;VI. Summary;443
10.3.7;References;444
10.4;Chapter 24. Cystic Renal Diseases;448
10.4.1;I. Human Clinical Disease Impact;448
10.4.2;II. Molecular Genetics of Human Renal Cystic Diseases;451
10.4.3;III. Animal Models and the Pathogenesis of Polycystic Kidney Diseases;456
10.4.4;IV. General Mechanisms Underlying Cystogenesis and the Function of Proteins Causing Polycystic Kidney Disease;459
10.4.5;V. Summary;460
10.4.6;References;460
10.5;Chapter 25. Renal Cell Carcinoma: The Human Disease;466
10.5.1;I. Phenotypic Diversity of Renal Cell Carcinoma (RCC) ;467
10.5.2;II. Molecular Genetics of RCC;467
10.5.3;III. The von Hippel–Lindau Tumor Suppressor Gene ;468
10.5.4;IV. TSC-2 Tumor Suppressor Gene;469
10.5.5;V. c-met;470
10.5.6;VI. Other Genes Involved in RCC ;470
10.5.7;VII. Animal Models for RCC;471
10.5.8;References;472
10.6;Chapter 26. The Tubule;476
10.6.1;I. Introduction;476
10.6.2;II. Proximal Tubulopathies;477
10.6.3;III. Defects of the Thick Ascending Limb and Distal Tubule;481
10.6.4;IV. Disorders of the Amiloride-Sensitive Epithelial Sodium Channel ;484
10.6.5;V. Disorders of the Collecting Dust;484
10.6.6;VI. Conclusions;485
10.6.7;References;485
10.7;Chapter 27. Diseases of the Glomerular Filtration Barrier: Alport Syndrome and Congenital Nephrosis (NPHS1);490
10.7.1;I. Alport Syndrome;491
10.7.2;II. Congenital Nephrosis NPHS1;495
10.7.3;III. Conclusions;497
10.7.4;References;498
10.8;Chapter 28. Congenital Kidney Diseases: Prospects for New Therapies;502
10.8.1;I. Introduction;502
10.8.2;II. Gene Transfer Technologies;502
10.8.3;III. Renal Precursor Cell Technology;504
10.8.4;IV. Experimental Treatments for Polycystic Kidney Diseases;505
10.8.5;References;505
11;Index;508

Leseproben

1 Introduction: Embryonic Kidneys and Other Nephrogenic Models Peter D. Vize I am a reformed lover of mesoderm induction. My association with the pronephros began for opportunistic reasons with the original plan being to exploit the expression of pronephric genes as markers of the patterning and establishment of the intermediate mesoderm. However, after finding such markers and following their expression in forming pronephroi, I became more interested in how these genes contributed to the regulation of kidney morphogenesis than in simply using them as markers of earlier events. Upon exploring what was known about embryonic kidney development (very little) and what could be learned using modern molecular embryology (an enormous amount), my future research directions were established. The embryonic kidneys are an ideal system in which to explore cell signaling, specification, adhesion, shape change, morphogenesis, and of course organogenesis. In addition to being a wonderful intellectual problem, the analysis of embryonic kidney development has many advantages in terms of the availability of techniques with which to dissect the process. Some of the organisms with the most extensive and well developed embryonic kidneys are also those with the most highly advanced genetic and embryological tools—a perfect match. Finally, similar genetic networks regulate the development of all nephric organs so data gleaned from embryonic systems are as relevant to human congenital disease as they are to the understanding of a quaint model. This first section of “The Kidney” covers the development of the embryonic kidneys, the pro- and mesonephroi, in a depth never before attempted in a text on kidney development and function. For those who no longer recall their undergraduate developmental biology course, even the names of these organs may be unfamiliar. After all, some mammals (including humans) can survive until birth without any kidneys, so of what interest are transient organs that some would posit are nothing more than evolutionary artifacts? In this introduction some of the reasons for refraining from such an opinion will be explored, as will the renaissance of research into the use of embryonic kidneys as model systems for the analysis of organogenesis. The following chapters provide a detailed description of the anatomy, development, function, and molecular biology of the transient embryonic kidneys as a resource for those willing to accept my arguments regarding relevancy. Similar arguments can be made supporting the relevance of invertebrate models of nephrogenesis, and Chapter 2 opens with a review of Malpighian tubule morphogenesis in the fruit fly, Drosophila melanogaster. The embryonic kidney of amphibians and fish is known as the pronephros, head kidney, or vorniere, while their adult kidney is known as a mesonephros, Wolffian body, or urniere. In some instances, fish and frog permanent mesonephroi are unnecessarily referred to as opisthonephroi, a term used to distinguish them from the transient mesonephroi of amniotes, but which results in more confusion than clarification. To begin the description of the development of vertebrate embryonic kidneys, a brief description of the occurrence of pro- and mesonephroi is appropriate. All vertebrates have distinct embryonic and adult kidneys (Goodrich, 1930; Burns, 1955; Saxén, 1987). Upon development of the adult kidney, the embryonic kidney usually either degenerates or becomes a part of the male reproductive system (Burns, 1955; Balinsky, 1970). In some instances the embryonic kidney switches to a new role as a lymphoid organ (Balfour, 1882). Well-developed, functional pronephroi are found in all fish, including dipnoids (e.g., lungfish), ganoids (e.g., sturgeon), and teleosts (e.g., zebrafish), and in all amphibians. Reptiles vary in the degree to which pronephroi form, with the more primitive reptiles having the most advanced pronephroi (Chapter 3). Birds have only a poorly developed pronephros, as do most mammals. In organisms with aquatic larvae, pronephroi are absolutely essential for survival. The pronephroi excrete copious amounts of dilute urine that allows such animals to maintain water balance. If the pronephroi are not functional, aquatic larvae die rapidly from oedema (Chapter 3). Pronephric kidneys are very simple and form within a day or two of fertilization. They usually contain a single nephron with an external glomerulus or glomus (Fig. 1.1). This glomus filters blood in an identical manner to standard glomeruli, except that the filtrate is deposited into a cavity rather than into Bowman’s space. In some instances, this cavity is the coelom, in others, a dorsal subcompartment of the coelom known as the nephrocoel, and in yet others into the pericardial cavity. The glomeral filtrate is collected from the receptive cavity by ciliated tubules known as nephrostomes. The nephrostomes in turn are linked to the pronephric tubules. These tubules have distinct proximal and distal segments. As with a classical mammalian nephron, the proximal segment functions in solute resorption and waste excretion, whereas the distal segment resorbs water. From the distal tubule urine passes down the pronephric duct to the cloaca. The entire pronephros is in essence a single large nephron. This section uses the term pronephros to describe an embryonic kidney that either utilizes an external glomus or is anatomically distinct from the mesonephric kidney in the same organism. Details of pronephric anatomy and complete bibliographies are provided by Chapters 3 through 5. Figure 1.1 Embryonic kidney nephrons. (Left) Lateral and anterior views of a frog pronephric nephron at around the onset of function are illustrated. The anterior border of the distal tubule is marked in the lateral view. The posterior border of this segment has not yet been defined, but the transition region is indicated. (Right) Two common forms of mesonephric nephron are illustrated. In each case, a glomerulus projects into the tip of the proximal segment. In the upper example the nephron branches into a peritoneal funnel that links the proximal tubule to the coelom. This type of nephron receives fluids from two sources: the glomerulus via filtration and the coelom via ciliary action (Chapter 3). ns1, ns2, ns3, nephrostomes 1 through 3; db1, db2, db3; dorsal branches 1 through 3; cmn, common (or broad) tubule; dstl, distal tubule; duct, nephric duct; p/d border, border between proximal and distal tubule zones; va, vas afferens; ve, vas efferens. Mesonephric kidneys are more complex in organization and consist of a linear sequence of nephrons (Fig. 1.2) linked to the nephric duct (Fig. 1.1). Mesonephric nephrons contain internal (or integrated) glomeruli, and in some instances, particularly in anterior mesonephric tubules, also link to the coelom via ciliated tubules called peritoneal funnels. Such funnels are sometimes referred to as nephrostomes, which they resemble very closely, but the correct nomenclature of the two structures allows one to specify whether the funnel links the coelom to the glomerulus or the glomerulus to the tubule. Nephrostomes are also sometimes present in mesonephroi so the distinction is important. Figure 1.2 Transition between pro- and mesonephroi in the frog, Rana temporaria, ventral view (after Marshall, 1902). The arterial system is colored red, the venous system blue, and the pronephric glomus (GM) purple. Pronephric (P) and mesonephric (MS) tubules are in green and the nephric duct (PND) is in yellow. Tadpoles of 6.5 mm (A), 12 mm (B), 40 mm (C), and a metamorph (D). Additional labeled structures correspond to A, dorsal aorta; AF, afferent branchial vessels; AL, lingual artery; AP, pulmonary artery; AR, anterior cerebral artery, CA, anterior commissural artery; CG, carotid gland; CP, posterior commissural artery, EF, efferent branchial vessels; EH, efferent hyoidean vessel; EM, efferent mandibular vessel, GE, gill; GM, glomus; KS, nephrostome; KU, ureter; MS, mesonephros/mesonephric tubules; OR, genital ridge; PND, nephric duct; P, pronephros; KS, nephrostomes; RT, truncus arteriosus; RS, sinus venosus, RV, ventricle; TC, cloaca; TO, oesophagus, cut short; TR, rectal sprout. The mesonephros is first functional at around 7.5 days of development in the frog Xenopus (Nieuwkoop and Faber, 1994) and continues to grow along with the animal. In organisms in which the mesonephros is transient, the complexity of this organ is extremely variable, ranging from almost no nephrons in rodents to 34 in humans and 80 in pigs (Felix, 1912; Bremer, 1916; Table 1.1). The anatomy of a human mesonephros is illustrated in Fig. 1.3. Table 1.1 The Mesonephric Nephron Number Figure 1.3 Human mesonephros (9.5 mm). Anterior nephrons are undergoing degeneration. Each nephron has an S-shaped tubule linking the glomerulus to the nephric duct. There is some variation in the spacing of the mesonephric tubules, and some glomeruli share a common collecting duct (e.g., glomeruli 15 and 16 and glomeruli 19 and 20 in the left mesonephros). After Felix (1912). In animals in which the mesonephros is the terminal kidney, such as amphibians and fish, the final organ is very complex, containing a large number of nephrons, most of which have an internal glomerulus. In the example of the frog...