Pediatric Nephrology

Ellis D. Avner • William E. HarmonPatrick Niaudet • Norishige YoshikawaFrancesco Emma • Stuart L. GoldsteinEditors

Pediatric Nephrology

Seventh Edition

With 506 Figures and 310 Tables

EditorsEllis D. AvnerDepartment of PediatricsMedical College of WisconsinChildren’s Research InstituteChildren’s HospitalHealth System of WisconsinMilwaukee, WI, USA

William E. HarmonBoston Children’s HospitalHarvard Medical SchoolBoston, MA, USA

Patrick NiaudetService de Néphrologie PédiatriqueHôpital Necker-Enfants MaladesUniversité Paris-DescartesParis, France

Norishige YoshikawaDepartment of PediatricsWakayama Medical UniversityWakayama City, Japan

Francesco EmmaDivision of NephrologyBambino Gesù Children’s Hospital – IRCCSRome, Italy

Stuart L. GoldsteinDivision of Nephrology andHypertensionThe Heart InstituteCincinnati Children’s HospitalMedical Center, College ofMedicineCincinnati, OH, USA

ISBN 978-3-662-43595-3 ISBN 978-3-662-43596-0 (eBook)ISBN 978-3-662-43597-7 (print and electronic bundle)DOI 10.1007/978-3-662-43596-0

Library of Congress Control Number: 2015954467

Springer Heidelberg New York Dordrecht London# Springer-Verlag Berlin Heidelberg 2009, 2016This work is subject to copyright. All rights are reserved by the Publisher, whether the whole orpart of the material is concerned, specifically the rights of translation, reprinting, reuse ofillustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way,and transmission or information storage and retrieval, electronic adaptation, computer software, orby similar or dissimilar methodology now known or hereafter developed.The use of general descriptive names, registered names, trademarks, service marks, etc. in thispublication does not imply, even in the absence of a specific statement, that such names are exemptfrom the relevant protective laws and regulations and therefore free for general use.The publisher, the authors and the editors are safe to assume that the advice and information in thisbook are believed to be true and accurate at the date of publication. Neither the publisher nor theauthors or the editors give a warranty, express or implied, with respect to the material containedherein or for any errors or omissions that may have been made.

Printed on acid-free paper

Springer-Verlag GmbH Berlin Heidelberg is part of Springer Science+Business Media (www.springer.com)

Preface

Through its past six editions, Pediatric Nephrology has become the standardmedical reference for health care professionals treating children with kidneydisease. This new edition, published 6 years since the previous version,reflects the tremendous increase in critical information required to translatemolecular and cellular pathophysiology into the prevention, diagnosis, andtherapy of childhood renal disorders. This text is particularly targeted topediatricians, pediatric nephrologists, pediatric urologists, and physicians intraining. It is also targeted to the increased number of health care professionalscomprising the multidisciplinary teams required to provide comprehensivecare for children with kidney disease and their families: geneticists, geneticcounselors, nurse specialists, dialysis personnel, nutritionists, social workers,and mental health professionals. Finally, this reference is designed to serve theneeds of primary care physicians (internists and family practitioners) as well asinternist nephrologists who are increasingly involved in the initial evaluationand/or the longitudinal care of children with renal disease under differenthealth care delivery systems evolving throughout the world.

To keep pace with the dramatic changes in pediatric renal medicine sincethe publication of the previous edition, the content of the seventh edition ofPediatric Nephrology has been completely revised, updated, and enlarged.The seventh edition contains 83 chapters in 3 volumes, which are organizedinto 12 main sections. The text begins with an overview of the basic develop-mental anatomy, biology, and physiology of the kidney, which provides thebasic information necessary to understand the developmental nature of pedi-atric renal diseases. This is followed by a comprehensive coverage of theevaluation, diagnosis, and therapy of specific childhood kidney diseases,including the extensive use of clinical algorithms. Of special note is a sectionfocused on rapidly evolving research methodologies, which are being trans-lated into new clinical approaches and therapies for many childhood renaldiseases. The final sections focus on comprehensive, state-of-the-art reviewsof acute and chronic renal failure in childhood.

Many chapters of the seventh edition have been completely rewritten bynew authors, all recognized as global authorities in their respective areas. Theremainder of the text has been totally revised, with junior authors often joiningsenior authors from the previous edition. The number of contributors hasincreased by 20 %. In addition to the new section on Global PediatricNephrology, which focuses on unique aspects of pediatric nephrology practice

v

and the epidemiology of pediatric renal disease in different regions of theworld, all of the chapters reflect a global perspective. This has been achievedthrough a dynamic, evolving relationship between the Editors and the Inter-national Pediatric Nephrology Association (IPNA). This has led to the con-tinued endorsement of Pediatric Nephrology as the standard globalreference text in the field of childhood kidney disease. We are proudthat the IPNA logo adorns the cover of Pediatric Nephrology in recognitionof this endorsement. The Editors look forward to this dynamic interactionwith IPNA to take advantage of future opportunities that such collaborationmay provide in the areas of education and outreach.

Other major changes are also evidenced by the new publication of theseventh edition of Pediatric Nephrology as a basic reference handbook in theSpringerReference series. Representing advances in state-of-the-art electronicpublishing, there are regularly updated online versions of each chapter of thistext at SpringerLink.com. The new publishing format has led to a welcomeexpansion of the published text to three volumes and the increased utilizationof high-resolution, color figures. Further, two new Editors, ProfessorFrancesco Emma of Ospedale Pediatrico Bambino Gesu in Rome, Italy, andProfessor Stuart L. Goldstein of the University of Cincinnati, USA, havejoined the Editorial Team. The addition of new Editors continues to providea dynamic mixture of continuity, new ideas, new perspectives, and globalism,which has distinguished each new edition of the text. Professors Emma andGoldstein join the four Editors from the sixth edition: Senior Editorand Emeritus Professor Ellis D. Avner, from the Medical College of Wiscon-sin, USA, and Professors William E. Harmon M.D. of Harvard University,USA, Patrick Niaudet, from the Hôpital Necker-Enfants Malades inParis, France; and Norishige Yoshikawa from Wakayama, Japan. The currentEditors are internationally recognized leaders in complementary areas ofpediatric nephrology and along with the more than 150 contributors reflectthe global nature of the text and the subspecialty it serves.

The Editors wish to thank a number of individuals whose efforts werecritical in the success of this project. The book would never have reachedthis seventh edition without the dedication of our professional colleagues atSpringer, Gabriele Schroder, Sandra Lesny, Gregory Sutorius, and particularlyMr. Andrew Spencer, Senior Editor of Major Reference Works, who served asour “guide for the perplexed” in all aspects of project management. We thankour families, and particularly our wives (Jane, Diane, Claire, Hiro, andElizabeth) for their support and understanding. In particular, the Senior Editorwishes to recognize his lifetime partner in all endeavors, Jane A. Avner, Ph.D.,for her extraordinary editorial assistance. And finally, we thank our mentors,our students, and most importantly, our patients and their families. Withoutthem, our work would lack purpose.

vi Preface

Finally, the Editors wish to dedicate this seventh edition of Pediatric Nephrol-ogy to three former Editors who passed away in 2014. Professors Martin Barratt,Malcolm A. “Mac” Holiday, and Robert Vernier were extraordinary physician-scientists who served as mentors to a generation of pediatric nephrologists. Thistext would not exist without their efforts, commitment, and selfless contributions.

Ellis D. AvnerWilliam E. Harmon

Patrick NiaudetNorishige Yoshikawa

Francesco EmmaStuart L. Goldstein

Preface vii

Contents

Volume 1

Part I Development . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1

1 Embryonic Development of the Kidney . . . . . . . . . . . . . . . . . 3Carlton Bates, Jacqueline Ho, and Sunder Sims-Lucas

2 Development of Glomerular Circulation and Function . . . . 37Alda Tufro and Ashima Gulati

3 Renal Tubular Development . . . . . . . . . . . . . . . . . . . . . . . . . . 61Michel Baum

4 Clinical Perinatal Urology . . . . . . . . . . . . . . . . . . . . . . . . . . . . 97David A. Diamond and Richard S. Lee

5 Renal Dysplasia/Hypoplasia . . . . . . . . . . . . . . . . . . . . . . . . . . 115Paul Goodyer and Indra R. Gupta

6 Developmental Syndromes and Malformations of theUrinary Tract . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 135Chanin Limwongse

Part II Homeostasis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 179

7 Physiology of the Developing Kidney: Sodium and WaterHomeostasis and Its Disorders . . . . . . . . . . . . . . . . . . . . . . . . 181Nigel Madden and Howard Trachtman

8 Physiology of the Developing Kidney: PotassiumHomeostasis and Its Disorder . . . . . . . . . . . . . . . . . . . . . . . . . 219Lisa M. Satlin and Detlef Bockenhauer

9 Physiology of the Developing Kidney: Acid-BaseHomeostasis and Its Disorders . . . . . . . . . . . . . . . . . . . . . . . . 247Peter D. Yorgin, Elizabeth G. Ingulli, and Robert H. Mak

10 Bone Developmental Physiology . . . . . . . . . . . . . . . . . . . . . . . 279MH Lafage-Proust

ix

11 Physiology of the Developing Kidney: Disorders andTherapy of Calcium and Phosphorous Homeostasis . . . . . . . 291Amita Sharma, Rajesh V. Thakker, and Harald J€uppner

12 Nutrition Management in Childhood Kidney Disease:An Integrative and Lifecourse Approach . . . . . . . . . . . . . . . . 341Lauren Graf, Kimberly Reidy, and Frederick J. Kaskel

13 Physiology of the Developing Kidney: Fluid andElectrolyte Homeostasis and Therapy of BasicDisorders (Na/H2O/K/Acid Base) . . . . . . . . . . . . . . . . . . . . . . 361Isa F. Ashoor and Michael J. G. Somers

Part III Translational Research Methods . . . . . . . . . . . . . . . . . . . . 423

14 Translational Research Methods: Basics of Renal MolecularBiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 425Gian Marco Ghiggeri, Maurizio Bruschi, andSimone Sanna-Cherchi

15 Translational Research Methods: The Value of AnimalModels in Renal Research . . . . . . . . . . . . . . . . . . . . . . . . . . . . 447Jordan Kreidberg

16 Basics of Clinical Investigation . . . . . . . . . . . . . . . . . . . . . . . . 473Susan L. Furth and Jeffrey J. Fadrowski

17 Genomic Methods in the Diagnosis and Treatment ofPediatric Kidney Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 499Karen Maresso and Ulrich Broeckel

18 Translational Research Methods: Renal Stem Cells . . . . . . . 525Kenji Osafune

19 Translational Research Methods: Tissue Engineering of theKidney and Urinary Tract . . . . . . . . . . . . . . . . . . . . . . . . . . . 571Austin G. Hester and Anthony Atala

Part IV Clinical Approach to the Child with Suspected RenalDisease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 593

20 Clinical Evaluation of the Child with SuspectedRenal Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 595Mohan A. Shenoy and Nicholas J. A. Webb

21 Laboratory Investigation of the Child with SuspectedRenal Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 613George van der Watt, Fierdoz Omar, Anita Brink, andMignon McCulloch

x Contents

22 Growth and Development of the Child withRenal Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 637Bethany Foster

23 Diagnostic Imaging of the Child with SuspectedRenal Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 667Jonathan Loewen and Larry A. Greenbaum

24 Pediatric Renal Pathology . . . . . . . . . . . . . . . . . . . . . . . . . . . . 705Agnes B. Fogo

Part V Glomerular Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 751

25 Congenital Nephrotic Syndrome . . . . . . . . . . . . . . . . . . . . . . . 753Hannu Jalanko and Christer Holmberg

26 Inherited Glomerular Diseases . . . . . . . . . . . . . . . . . . . . . . . . 777Michelle N. Rheault and Clifford E. Kashtan

27 Idiopathic Nephrotic Syndrome in Children: GeneticAspects . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 805Olivia Boyer, Kálmán Tory, Eduardo Machuca, andCorinne Antignac

28 Idiopathic Nephrotic Syndrome in Children: ClinicalAspects . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 839Patrick Niaudet and Olivia Boyer

29 Immune-Mediated Glomerular Injury in Children . . . . . . . . 883Michio Nagata

30 Complement-Mediated Glomerular Injury inChildren . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 927Zoltán Prohászka, Marina Vivarelli, andGeorge S. Reusz

31 Acute Postinfectious Glomerulonephritis in Children . . . . . . 959Bernardo Rodríguez-Iturbe, Behzad Najafian,Alfonso Silva, and Charles E. Alpers

32 Immunoglobulin A Nephropathies in Children(Includes HSP) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 983Koichi Nakanishi and Norishige Yoshikawa

33 Membranoproliferative and C3-MediatedGN in Children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1035Christoph Licht, Magdalena Riedl, Matthew C. Pickering, andMichael Braun

34 Membranous Nephropathy in Children . . . . . . . . . . . . . . . . . 1055Rudolph P. Valentini

Contents xi

Volume 2

Part VI Tubular Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1077

35 Nephronophthisis and Medullary Cystic Kidney Disease inChildren . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1079Friedhelm Hildebrandt

36 Childhood Polycystic Kidney Disease . . . . . . . . . . . . . . . . . . . 1103William E. Sweeney Jr., Meral Gunay-Aygun,Ameya Patil, and Ellis D. Avner

37 Aminoaciduria and Glycosuria in Children . . . . . . . . . . . . . . 1155Israel Zelikovic

38 Renal Tubular Disorders of Electrolyte Regulationin Children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1201Olivier Devuyst, Hendrica Belge, Martin Konrad,Xavier Jeunemaitre, and Maria-Christina Zennaro

39 Renal Tubular Acidosis in Children . . . . . . . . . . . . . . . . . . . . 1273Raymond Quigley and Matthias T. F. Wolf

40 Nephrogenic Diabetes Insipidus in Children . . . . . . . . . . . . . 1307Nine V. A. M. Knoers and Elena N. Levtchenko

41 Cystinosis and Its Renal Complications in Children . . . . . . . 1329William A. Gahl and Galina Nesterova

42 Pediatric Fanconi Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . 1355Takashi Igarashi

43 Primary Hyperoaxaluria in Children . . . . . . . . . . . . . . . . . . . 1389Pierre Cochat, Neville Jamieson, andCecile Acquaviva-Bourdain

44 Pediatric Tubulointerstitial Nephritis . . . . . . . . . . . . . . . . . . . 1407Uri S. Alon

Part VII Kidney Involvement in Systemic Diseases . . . . . . . . . . . 1429

45 Renal Involvement in Children with Vasculitis . . . . . . . . . . . 1431Seza Ozen and Diclehan Orhan

46 Renal Involvement in Children with Systemic LupusErythematosus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1449Patrick Niaudet, Brigitte Bader-Meunier, and Rémi Salomon

47 Renal Involvement in Children with HUS . . . . . . . . . . . . . . . 1489Carla M. Nester and Sharon P. Andreoli

xii Contents

48 Sickle Cell Nephropathy in Children . . . . . . . . . . . . . . . . . . . 1523Connie Piccone and Katherine MacRae Dell

49 Diabetic Nephropathy in Children . . . . . . . . . . . . . . . . . . . . . 1545M. Loredana Marcovecchio and Francesco Chiarelli

50 Renal Manifestations of Metabolic Disordersin Children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1569Francesco Emma, William G. van’t Hoff, andCarlo Dionisi Vici

51 Infectious Diseases and the Kidney in Children . . . . . . . . . . 1609Jennifer Stevens, Jethro A. Herberg, and Michael Levin

52 Nephrotoxins and Pediatric Kidney Injury . . . . . . . . . . . . . . 1655Takashi Sekine

Part VIII Urinary Tract Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1693

53 Urinary Tract Infections in Children . . . . . . . . . . . . . . . . . . . 1695Elisabeth M. Hodson and Jonathan C. Craig

54 Vesicoureteral Reflux and Renal Scarring in Children . . . . . 1715Tej K. Mattoo, Ranjiv Mathews, and Indra R. Gupta

55 Pediatric Obstructive Uropathy . . . . . . . . . . . . . . . . . . . . . . . 1749Bärbel Lange-Sperandio

56 Pediatric Bladder Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . 1779Etienne Berard

57 Urolithiasis in Children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1821Vidar Edvardsson

58 Pediatric Renal Tumors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1869Elizabeth Mullen, Jordan Kreidberg, andChristopher B. Weldon

Volume 3

Part IX Hypertension . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1905

59 Epidemiology of Hypertension in Children . . . . . . . . . . . . . . 1907Midori Awazu

60 Pathophysiology of Pediatric Hypertension . . . . . . . . . . . . . . 1951Ikuyo Yamaguchi and Joseph T. Flynn

61 Evaluation of Hypertension in Childhood Diseases . . . . . . . . 1997Eileen D. Brewer and Sarah J. Swartz

Contents xiii

62 Management of the Hypertensive Child . . . . . . . . . . . . . . . . . 2023Demetrius Ellis and Yosuke Miyashita

Part X Acute Renal Injury . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2099

63 Pathogenesis of Acute Kidney Injury . . . . . . . . . . . . . . . . . . . 2101David P. Basile, Rajasree Sreedharan, andScott K. Van Why

64 Evaluation and Management of Acute Kidney Injury inChildren . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2139Stuart L. Goldstein and Michael Zappitelli

Part XI Chronic Renal Failure . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2169

65 Pathophysiology of Progressive Renal Diseasein Children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2171H. William Schnaper

66 Management of Chronic Kidney Disease in Children . . . . . . 2207Rene G. VanDeVoorde, Craig S. Wong, andBradley A. Warady

67 Handling of Drugs in Children with AbnormalRenal Function . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2267Guido Filler, Amrit Kirpalani, and Bradley L. Urquhart

68 Endocrine and Growth Abnormalities in ChronicKidney Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2295Franz Schaefer

69 Mineral and Bone Disorders in Children with ChronicKidney Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2349Katherine Wesseling-Perry and Isidro B. Salusky

70 Peritoneal Dialysis in Children . . . . . . . . . . . . . . . . . . . . . . . . 2381Enrico Verrina and Claus Peter Schmitt

71 Hemodialysis in Children . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2433Lesley Rees

72 Immunology of Pediatric Renal Transplantation . . . . . . . . . 2457Elizabeth G. Ingulli, Stephen I. Alexander, and David M. Briscoe

73 Pediatric Renal Transplantation . . . . . . . . . . . . . . . . . . . . . . . 2501Nancy M. Rodig, Khashayar Vakili, and William E. Harmon

74 Immunosuppression for Pediatric RenalTransplantation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2553Jodi M. Smith, Thomas L. Nemeth, and Ruth A. McDonald

75 Complications of Pediatric Renal Transplantation . . . . . . . . 2573Vikas R. Dharnidharka and Carlos E. Araya

xiv Contents

Part XII IPNA: Global Pediatric Nephrology . . . . . . . . . . . . . . . . . 2605

76 IPNA: Global Pediatric Nephrology, Introduction andOverview . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2607Pierre Cochat and Isidro B. Salusky

77 AFPNA . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2613Mignon McCulloch, Hesham Safouh, Amal Bourquia, andPriya Gajjar

78 ALANEPE . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2631Vera Koch, Nelson Orta, and Ramon Exeni

79 AsPNA . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2639Hui-Kim Yap, Man-Chun Chiu, Arvind Bagga, andHesham Safouh

80 Pediatric Nephrology in North America . . . . . . . . . . . . . . . . 2665Victoria F. Norwood and Maury Pinsk

81 ANZPNA . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2673Deborah Lewis

82 ESPN . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2681Rosanna Coppo

83 JSPN . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2687Kazumoto Iijima

Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2697

Contents xv

Contributors

Cecile Acquaviva-Bourdain Centre de référence des maladies rénales raresNéphrogones, Hôpital Femme Mère Enfant, Hospices Civils de Lyon &Université de Lyon, Lyon, France

Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centrede Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France

Stephen I. Alexander Discipline of Paediatrics and Child Health, TheUniversity of Sydney, Sydney, New South Wales, Australia

Division of Nephrology, Children’s Hospital at Westmead, Sydney, NewSouth Wales, Australia

Uri S. Alon Section of Pediatric Nephrology, The Children’s Mercy Hospitaland Clinics, University of Missouri at Kansas City, School of Medicine,Kansas City, MO, USA

Charles E. Alpers Department of Pathology, University of Washington,Seattle, WA, USA

Sharon P. Andreoli Division of Nephrology, Indianapolis, IN, USA

Corinne Antignac Laboratory of Hereditary Kidney Diseases, Inserm UMR1163, Paris, France

Paris Descartes, Sorbonne Paris Cité University, Imagine Institute, Paris,France

Department of Genetics, MARHEA reference center, Necker – EnfantsMalades Hospital, Paris, France

Carlos E. Araya University of Central Florida and Nemours Children’sHospital, Orlando, FL, USA

Isa F. Ashoor Division of Nephrology, Children’s Hospital, New Orleans,LA, USA

Anthony Atala School of Medicine, Department of Urology, Wake ForestInstitute for Regenerative Medicine, Wake Forest University, Winston Salem,NC, USA

xvii

Ellis D. Avner Department of Pediatrics, Medical College of Wisconsin,Children’s Research Institute, Children’s Hospital Health System of Wiscon-sin, Milwaukee, WI, USA

Midori Awazu Department of Pediatrics, Keio University School of Medi-cine, Shinjuku-ku, Tokyo, Japan

Brigitte Bader-Meunier Service d’Immunologie et RhumatologiePédiatrique, Hôpital Necker-Enfants Malades, Paris, France

Arvind Bagga Division of Nephrology, All India Institute of MedicalSciences, New Delhi, India

David P. Basile Indiana University School of Medicine, Indianapolis, IN, USA

Carlton Bates Department of Pediatrics, Division of Pediatric Nephrology,Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh Schoolof Medicine, Pittsburgh, PA, USA

Michel Baum Departments of Pediatrics and Internal Medicine, Universityof Texas Southwestern Medical Center at Dallas, Dallas, TX, USA

Hendrica Belge Zurich Institute for Human Physiology, University ofZurich, Institute of Physiology, Zurich Center for Integrative Human Physiol-ogy (ZIHP), Z€urich, Switzerland

Etienne Berard Pediatric Nephrology Unit, Universitary Hospital of Nice(France), Nice, France

Detlef Bockenhauer Great Ormond Street Hospital, Institute of ChildHealth, University College London, London, UK

Amal Bourquia Paediatric Nephology, Red Cross War Memorial Children’sHospital, Dept. of Paediatric Medicine, University of Cape Town, WesternCape, South Africa

Olivia Boyer Service de Néphrologie Pédiatrique, Hôpital Necker-EnfantsMalades, Université Paris-Descartes, Paris, France

Michael Braun Renal Section, Department of Pediatrics, Texas Children’sHospital, Balyor College of Medicine, Houston, TX, USA

Eileen D. Brewer Department of Pediatrics Renal Section, Baylor College ofMedicine and Texas Children’s Hospital, Houston, TX, USA

Anita Brink Department of Pediatrics and Child Health (Nuclear Medicine),University of Cape Town, Red CrossWarMemorial Children’s Hospital, CapeTown, South Africa

David M. Briscoe Department of Pediatrics, Harvard Medical School,Boston, MA, USA

Division of Nephrology, Transplant Research Program, Boston Children’sHospital, Boston, MA, USA

xviii Contributors

Ulrich Broeckel Department of Pediatrics, Medical College of Wisconsinand Children’s Hospital of Wisconsin, Milwaukee, WI, USA

Maurizio Bruschi Laboratory of Physiopathology of Uremia, Division ofNephrology, Dialysis and Transplantation, Istituto Giannina Gaslini, Genoa,Italy

Francesco Chiarelli University of Chieti, Chieti, Italy

Man-Chun Chiu Department of Pediatrics and Adolescent Medicine, Prin-cess Margaret Hospital, Hong Kong University, Kowloon, Hong Kong

Pierre Cochat Centre de référence des maladies rénales rares Néphrogones,Hôpital Femme Mère Enfant, Hospices Civils de Lyon & Université de Lyon,Lyon, France

IBCP-UMR 5305 CNRS, Université Claude-Bernard Lyon 1, Lyon, France

Rosanna Coppo Nephrology Dialysis and Transplantation Unit, AziendaOspedaliera-Universitaria Città della Salute e della Scienza di Torino, ReginaMargherita Children’s University Hospital, Turin, Italy

Jonathan C. Craig Centre for Kidney Research, The Children’s Hospital atWestmead, Westmead, Sydney, NSW, Australia

Sydney School of Public Health, University of Sydney, Sydney, NSW,Australia

Katherine MacRae Dell Center for Pediatric Nephrology, Department ofPediatrics, Cleveland Clinic Children’s and Case Western Reserve University,Cleveland, OH, USA

Olivier Devuyst Zurich Institute for Human Physiology, University ofZurich, Institute of Physiology, Zurich Center for Integrative Human Physiol-ogy (ZIHP), Z€urich, Switzerland

Vikas R. Dharnidharka Pediatric Nephrology, Washington UniversitySchool of Medicine and St. Louis Children’s Hospital, St. Louis, MO, USA

David A. Diamond Department of Urology, Harvard Medical School,Boston Children’s Hospital, Boston, MA, USA

Carlo Dionisi Vici Division of Metabolic Diseases, Bambino GesùChildren’s Hospital – IRCCS, Rome, Italy

Vidar Edvardsson Landspitali – The National University Hospital of Ice-land, Reykjavik, Iceland and Faculty of Medicine, School of Health Sciences,University of Iceland, Reykjavik, Iceland

Demetrius Ellis Department of Pediatrics, Division of Pediatric Nephrology,Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh Schoolof Medicine, Pittsburgh, PA, USA

Francesco Emma Division of Nephrology, Bambino Gesù Children’sHospital – IRCCS, Rome, Italy

Contributors xix

Ramon Exeni Department of Nephrology, Children’s Hospital “San Justo”,Buenos Aires, Argentina

Jeffrey J. Fadrowski Department of Pediatrics, John Hopkins UniversitySchool of Medicine, Baltimore, MD, USA

Guido Filler Departments of Pediatrics, Medicine, and Pathology LaboratoryMedicine, Schulich School of Medicine and Dentistry, Western University,London, ON, Canada

Children’s Hospital of Western Ontario, Children’s Health Research Institute(CHRI), London, ON, Canada

Joseph T. Flynn Division of Nephrology, Seattle Children’s Hospital;Department of Pediatrics, University of Washington School of Medicine,Seattle, WA, USA

Agnes B. Fogo Department of Pathology, Microbiology and Immunology,Vanderbilt University Medical Center, Nashville, TN, USA

Bethany Foster The Research Institute of the McGill University HealthCentre, Montreal, QC, Canada

Susan L. Furth Departments of Pediatrics and Epidemiology, PerelmanSchool of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

William A. Gahl Section on Human Biochemical Genetics, Medical Genet-ics Branch, National Human Genome Research Institute, National Institutes ofHealth, Bethesda, MD, USA

Priya Gajjar Paediatric Nephology, Red Cross War Memorial Children’sHospital, Dept. of Paediatric Medicine, University of Cape Town, WesternCape, South Africa

Gian Marco Ghiggeri Laboratory of Physiopathology of Uremia, Divisionof Nephrology, Dialysis and Transplantation, Istituto Giannina Gaslini,Genoa, Italy

Stuart L. Goldstein Division of Nephrology and Hypertension, The HeartInstitute, Cincinnati Children’s Hospital Medical Center, College of Medicine,Cincinnati, OH, USA

Paul Goodyer Division of Pediatric Nephrology, Montreal Children’sHospital, McGill University, Montreal, QC, Canada

Lauren Graf Children’s Hospital at Montefiore, Albert Einstein College ofMedicine, Bronx, NY, USA

Larry A. Greenbaum Department of Pediatric Radiology, Emory UniversitySchool of Medicine, Atlanta, GA, USA

Ashima Gulati Department of Pediatrics, Nephrology Section, Yale Schoolof Medicine, New Haven, CT, USA

xx Contributors

Meral Gunay-Aygun Medical Genetics Branch, The Intramural Program ofthe Office of Rare Diseases, National Human Genome Research Institute,Bethesda, MD, USA

Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University School of Medicine, Baltimore, MD, USA

Indra R. Gupta Department of Pediatrics and Department of Human Genet-ics, Division of Pediatric Nephrology, Montreal Children’s Hospital, McGillUniversity, Montréal, QC, Canada

William E. Harmon Boston Children’s Hospital, Harvard Medical School,Boston, MA, USA

Jethro A. Herberg Imperial College London, London, UK

Austin G. Hester School of Medicine, Department of Urology, Wake ForestInstitute for Regenerative Medicine, Wake Forest University, Winston Salem,NC, USA

Friedhelm Hildebrandt Harvard Medical School, Boston, MA, USA

Jacqueline Ho Department of Pediatrics, Division of Pediatric Nephrology,Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh Schoolof Medicine, Pittsburgh, PA, USA

Elisabeth M. Hodson Centre for Kidney Research, The Children’s Hospitalat Westmead, Westmead, Sydney, NSW, Australia

Sydney School of Public Health, University of Sydney, Sydney, NSW,Australia

Christer Holmberg Hospital for Children and Adolescents, University ofHelsinki, Helsinki, Finland

Takashi Igarashi National Center for Child Health and Development(NCCHD), Tokyo, Japan

Kazumoto Iijima Department of Pediatrics, Kobe University GraduateSchool of Medicine, Kobe, Japan

Elizabeth G. Ingulli Department of Pediatrics, University of California,San Diego, CA, USA

Division of Nephrology, Rady Children’s Hospital San Diego, San Diego,CA, USA

Kidney Transplant Program, Rady Children’s Hospital, San Diego, CA, USA

Hannu Jalanko Hospital for Children and Adolescents, University ofHelsinki, Helsinki, Finland

Neville Jamieson Department of Surgery, Addenbrookes Hospital,Cambridge University Teaching Hospitals, Cambridge, UK

Xavier Jeunemaitre Department of Molecular Genetics, Hôpital EuropéenGeorge Pompidou, Paris, France

Contributors xxi

Harald J€uppner Departments of Medicine and Pediatrics, Endocrine Unitand Pediatric Nephrology Unit, Massachusetts General Hospital and HarvardMedical School, Boston, MA, USA

Clifford E. Kashtan Department of Pediatrics, Division of PediatricNephrology, University of Minnesota Masonic Children’s Hospital, Minneap-olis, MN, USA

Frederick J. Kaskel Division of Pediatric Nephrology, Children’s Hospitalat Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA

Amrit Kirpalani Departments of Pediatrics, Schulich School of Medicineand Dentistry, Western University, London, ON, Canada

Nine V. A.M. Knoers Departments of Medical Genetics, University MedicalCentre Utrecht, Utrecht, The Netherlands

Vera Koch Instituto da Criança- Pediatric Nephrology Unit, Department ofPediatrics, University of Sao Paulo Medical School, Sao Paulo, Brazil

Martin Konrad Department of General Pediatrics, Pediatric Nephrology,University Hospital, M€unster, Germany

Jordan Kreidberg Children’s Hospital Boston, Boston, MA, USA

MH Lafage-Proust INSERM U 1059, Université de Lyon, Saint-Etienne,France

Bärbel Lange-Sperandio Dr. v. Hauner Children’s Hospital, Department ofPediatric Nephrology, LMU, Munich, Germany

Richard S. Lee Department of Urology, Harvard Medical School, BostonChildren’s Hospital, Boston, MA, USA

Michael Levin Department of Medicine, Imperial College London, London,UK

Elena N. Levtchenko Department of Pediatric Nephrology, Department ofGrowth and Regeneration, University Hospitals Leuven, KatholiekeUniversiteit Leuven, Leuven, Belgium

Deborah Lewis Sydney, NSW, Australia

Christoph Licht Division of Nephrology, The Hospital for Sick Children,University of Toronto, Toronto, ON, Canada

Research Institute, Cell Biology Program, The Hospital for Sick Children,Toronto, ON, Canada

Department of Paediatrics, University of Toronto, Toronto, ON, Canada

Chanin Limwongse Department of Medicine, Division of Medical Genetics,Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkoknoi,Bangkok, Thailand

Jonathan Loewen Department of Pediatric Radiology, Emory UniversitySchool of Medicine, Atlanta, GA, USA

xxii Contributors

Eduardo Machuca Department of Nephrology, Medical School, PontificiaUniversidad Católica de Chile, Santiago, Chile

Nigel Madden NYU Langone Medical Center and NYU School ofMedicine, New York, NY, USA

Robert H. Mak Pediatric Nephrology, University of California, San Diego,CA, USA

Pediatric Nephrology Division, Rady Children’s Hospital, San Diego, CA, USA

M. Loredana Marcovecchio University of Chieti, Chieti, Italy

Karen Maresso Section of Genomic Pediatrics, Medical College ofWisconsin, Milwaukee, WI, USA

Ranjiv Mathews The Nevada School of Medicine, The Johns HopkinsSchool of Medicine, Las Vegas, NV, USA

Tej K. Mattoo Pediatric Nephrology and Hypertension, Wayne StateUniversity School of Medicine, Children’s Hospital of Michigan, Detroit,MI, USA

Mignon McCulloch Department of Paediatric Intensive Care/Nephrology,University of Cape Town, Red CrossWarMemorial Children’s Hospital, CapeTown, Western Cape, South Africa

Ruth A. McDonald Division of Nephrology, Seattle Children’s, Universityof Washington, Seattle, WA, USA

Yosuke Miyashita Department of Pediatrics, Division of Pediatric Nephrol-ogy, Children’s Hospital of Pittsburgh of UPMC, University of PittsburghSchool of Medicine, Pittsburgh, PA, USA

Elizabeth Mullen Hematology Oncology, Dana-Farber/Boston Children’sBlood Disorders and Cancer Center, Boston, MA, USA

Michio Nagata Graduate School of Comprehensive Human Sciences,University of Tsukuba, Tsukuba, Japan

Behzad Najafian Department of Pathology, University of Washington,Seattle, WA, USA

Koichi Nakanishi Department of Pediatrics, Wakayama Medical University,Wakayama City, Japan

Thomas L. Nemeth Department of Pharmacy, Seattle Children’s, Universityof Washington, Seattle, WA, USA

Carla M. Nester Stead Family Department of Pediatrics, Department ofInternal Medicine, Divisions of Nephrology, University of Iowa Children’sHospital, Carver College of Medicine, Iowa City, IA, USA

Galina Nesterova Section on Human Biochemical Genetics, Medical Genet-ics Branch, National Human Genome Research Institute, National Institutes ofHealth, Bethesda, MD, USA

Contributors xxiii

Patrick Niaudet Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Université Paris-Descartes, Paris, France

Victoria F. Norwood University of Virginia, Charlottesville, VA, USA

Fierdoz Omar Chemical Pathology, University of Cape Town and NationalHealth Laboratory Service, Red Cross Children’s Hospital and Groote SchuurHospital, Cape Town, South Africa

Diclehan Orhan Department of Pediatric Pathology, Hacettepe University,Sihhiye, Ankara, Turkey

Nelson Orta Service of Pediatric Nephrology, Children’s Hospital “JorgeLizarraga”, University of Carabobo, Valencia, Venezuela

Kenji Osafune Center for iPS Cell Research and Application (CiRA), KyotoUniversity, Sakyo-ku, Kyoto, Japan

Seza Ozen Department of Pediatrics, Faculty of Medicine, HacettepeUniversity, Sihhiye, Ankara, Turkey

Ameya Patil Department of Pediatrics, Medical College of Wisconsin, Chil-dren’s Research Institute, Children’s Hospital Health System of Wisconsin,Milwaukee, WI, USA

Connie Piccone Rainbow Babies and Children’s Hospital, Cleveland,OH, USA

Matthew C. Pickering Centre for Complement and Inflammation Research,Imperial College, London, UK

Maury Pinsk University of Alberta, Edmonton, AB, Canada

Zoltán Prohászka 3rd Department of Medicine, Faculty of Medicine,Semmelweis University, Budapest, Hungary

Raymond Quigley Department of Pediatrics, University of Texas South-western Medical Center at Dallas, Dallas, TX, USA

Lesley Rees Department of Nephrology, Great Ormond Street Hospital forChildren NHS Trust, London, UK

Kimberly Reidy Division of Pediatric Nephrology, Children’s Hospital atMontefiore, Albert Einstein College of Medicine, Bronx, NY, USA

George S. Reusz 1st Department of Pediatrics, Faculty of Medicine,Semmelweis University, Budapest, Hungary

Michelle N. Rheault Department of Pediatrics, Division of PediatricNephrology, University of Minnesota Masonic Children’s Hospital, Minneap-olis, MN, USA

Magdalena Riedl Research Institute, Cell Biology Program, The Hospitalfor Sick Children, Toronto, ON, Canada

Department of Paediatrics, Innsbruck Medical University, Innsbruck, Tyrol,Austria

xxiv Contributors

Nancy M. Rodig Boston Children’s Hospital, Harvard Medical School,Boston, MA, USA

Bernardo Rodríguez-Iturbe Nephrology Service, Hospital Universitario,Maracaibo, Estado Zulia, Venezuela

Hesham Safouh Faculty of Medicine, Center for Pediatric Nephrology andTransplantation (CPNT), Cairo University, Orman, Giza, Egypt

Rémi Salomon Service de Néphrologie Pédiatrique, Hôpital Necker-EnfantsMalades, Université Paris-Descartes, Paris, France

Isidro B. Salusky Division of Pediatric Nephrology, Clinical TranslationalResearch Center, David Geffen School of Medicine at UCLA, Los Angeles,CA, USA

Simone Sanna-Cherchi Division of Nephrology, Columbia University,College of Physicians and Surgeons, New York, NY, USA

Lisa M. Satlin Department of Pediatrics, Division of Pediatric Nephrology,Icahn School of Medicine at Mount Sinai, New York, NY, USA

Franz Schaefer Division of Pediatric Nephrology, University Children’sHospital, Heidelberg, Germany

Claus Peter Schmitt Centre for Pediatric and Adolescent Medicine, Heidel-berg, Germany

H.William Schnaper Division of Kidney Diseases, Ann and Robert H. LurieChildren’s Hospital of Chicago, Department of Pediatrics, NorthwesternUniversity Feinberg School of Medicine, Chicago, IL, USA

Takashi Sekine Department of Pediatrics, Toho University Faculty ofMedicine, Meguro-ku, Tokyo, Japan

Amita Sharma Department of Pediatrics, Pediatric Nephrology Unit, Mas-sachusetts General Hospital and Harvard Medical School, Boston, MA, USA

Mohan A. Shenoy Department of Pediatric Nephrology, Royal ManchesterChildren’s Hospital, Manchester, UK

Alfonso Silva Nephrology Service, Hospital Universitario, Maracaibo,Estado Zulia, Venezuela

Sunder Sims-Lucas Department of Pediatrics, Division of PediatricNephrology, Children’s Hospital of Pittsburgh of UPMC, University of Pitts-burgh School of Medicine, Pittsburgh, PA, USA

Jodi M. Smith Division of Nephrology, Seattle Children’s, University ofWashington, Seattle, WA, USA

Michael J. G. Somers Division of Nephrology, Boston Children’s Hospital,Harvard Medical School, Boston, MA, USA

Rajasree Sreedharan Medical College of Wisconsin, Milwaukee, WI, USA

Jennifer Stevens University Hospital Wales, Cardiff, S. Wales, UK

Contributors xxv

Sarah J. Swartz Department of Pediatrics Renal Section, Baylor College ofMedicine and Texas Children’s Hospital, Houston, TX, USA

William E. Sweeney Jr. Department of Pediatrics, Medical College of Wis-consin, Children’s Research Institute, Children’s Hospital Health System ofWisconsin, Milwaukee, WI, USA

Rajesh V. Thakker Radcliffe Department of Medicine, Academic EndocrineUnit, University of Oxford, OCDEM (Oxford Centre for Diabetes, Endocri-nology and Metabolism), The Churchill Hospital Headington, Oxford, UK

Kálmán Tory Laboratory of Hereditary Kidney Diseases, Inserm UMR1163, Paris, France

Department of Pediatrics, Semmelweis University, Budapest, Hungary

Howard Trachtman NYU Langone Medical Center and NYU School ofMedicine, New York, NY, USA

Alda Tufro Department of Pediatrics, Nephrology Section, Yale School ofMedicine, New Haven, CT, USA

Bradley L. Urquhart Departments of Pediatrics, Department of Medicine,Physiology and Pharmacology, Western University, London, ON, Canada

Children’s Health Research Institute (CHRI), London, ON, Canada

Khashayar Vakili Boston Children’s Hospital, Harvard Medical School,Boston, MA, USA

Rudolph P. Valentini Pediatric Nephrology, Children’s Hospital of Michi-gan, Detroit, MI, USA

Wayne State University School of Medicine, Detroit, MI, USA

George van der Watt Chemical Pathology, University of Cape Town andNational Health Laboratory Service, Red Cross Children’s Hospital andGroote Schuur Hospital, Cape Town, South Africa

Scott K. Van Why Medical College of Wisconsin, Milwaukee, WI, USA

William G. van’t Hoff Great Ormond Street Hospital, London, UK

Rene G. VanDeVoorde Cincinnati Children’s Hospital Medical Center,Cincinnati, OH, USA

Enrico Verrina Nephrology, Dialysis and Transplantation Unit, GianninaGaslini Childrens Hospital, Genoa, Italy

Marina Vivarelli Division of Nephrology and Dialysis, Children’s HospitalBambino Gesù-IRCCS, Rome, Italy

Bradley A. Warady Pediatric Nephrology, Children’s Mercy Hospital,Kansas City, MO, USA

Nicholas J. A. Webb Department of Pediatric Nephrology, Royal Manches-ter Children’s Hospital, Manchester, UK

xxvi Contributors

Christopher B. Weldon Department of Surgery, Boston Children’s Hospitaland Harvard Medical School, Boston, MA, USA

Katherine Wesseling-Perry Division of Pediatric Nephrology, DavidGeffen School of Medicine at UCLA, Los Angeles, CA, USA

Matthias T. F. Wolf Department of Pediatrics, University of Texas South-western Medical Center at Dallas, Dallas, TX, USA

Craig S. Wong Pediatric Nephrology, University of New Mexico HealthSciences Center, Albuquerque, NM, USA

Ikuyo Yamaguchi Division of Pediatric Nephrology, University of TexasSchool ofMedicine at San Antonio, University of Texas Health Science Centerat San Antonio, San Antonio, TX, USA

Hui-Kim Yap Yong Loo Lin School of Medicine, National University ofSingapore, Singapore, Singapore

Peter D. Yorgin Pediatric Nephrology, University of California, San Diego,CA, USA

Pediatric Nephrology Division, Rady Children’s Hospital, San Diego,CA, USA

Norishige Yoshikawa Department of Pediatrics, Wakayama MedicalUniversity, Wakayama City, Japan

Michael Zappitelli Pediatrics, Division of Nephrology, Montreal Children’sHospital, McGill University Health Center, Montreal, QC, Canada

Israel Zelikovic Department of Physiology and Biophysics, Faculty ofMedicine, Technion – Israel Institute of Technology, Haifa, Israel

Division of Pediatric Nephrology, Rambam Medical Center, Haifa, Israel

Maria-Christina Zennaro Inserm U970, Paris Cardiovascular ResearchCenter, Paris, France

Contributors xxvii