Congenital Anomalies of the Kidney and Urinary Tract: Clinical Implications in Children PDF
Preview Congenital Anomalies of the Kidney and Urinary Tract: Clinical Implications in Children
Congenital Anomalies of the Kidney and Urinary Tract Clinical Implications in Children Amin J. Barakat H. Gil Rushton Editors 123 Congenital Anomalies of the Kidney and Urinary Tract Amin J. Barakat (cid:129) H. Gil Rushton Editors Congenital Anomalies of the Kidney and Urinary Tract Clinical Implications in Children Editors Amin J. Barakat H. Gil Rushton Department of Pediatrics Division of Pediatric Urology Georgetown University Medical Center Children’s National Medical Center Washington , DC , USA Departments of Urology and Pediatrics George Washington University School of Medicine Washington , DC , USA ISBN 978-3-319-29217-5 ISBN 978-3-319-29219-9 (eBook) DOI 10.1007/978-3-319-29219-9 Library of Congress Control Number: 2016941057 © Springer International Publishing Switzerland 2016 T his work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfi lms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. T he use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specifi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. T he publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer International Publishing AG Switzerland To our families and the families of our patients who inspire us to further our knowledge Foreword W e are now seeing an increasing number of children and young adults with c ongenital anomalies of the kidney and urinary tract. Many of these conditions are diagnosed in the prenatal period. Although there has been a signifi cant improve- ment in the imaging, genetics, and treatment of these anomalies, their overall diagnosis and management can be very challenging. Thus the need for such a com- prehensive book could not be more timely. T his is a very impressive reference book written by an outstanding group of internationally recognized pediatric nephrologists and urologists. The editors, Drs. Barakat and Rushton, are well-known leaders in the fi eld. Although the book is meant to be a desk reference to aid physicians to diagnose, manage, and refer chil- dren with various congenital anomalies of the kidney and urinary tract, it is cer- tainly a very comprehensive one. This book will also serve as a guide for medical students, house offi cers in training, and other healthcare professionals. E ach chapter is very well organized and discusses clinical presentation, work- ups, laboratory testing including imaging and treatment as well as surgery. The genetics of many of these conditions is also discussed as well as the prenatal diag- nosis and subsequent postnatal management. C ontroversies in management of various conditions, e.g., vesicoureteral refl ux, are discussed in a very objective and fair manner. T he last chapter of the book stresses the association of congenital anomalies of the kidney and urinary tract with those of other organ systems and is an important reference guide. The appendix is very well organized and includes various syn- dromes associated with congenital anomalies of the kidney and urinary tract. vii viii Foreword In summary, this book is a very important and comprehensive reference guide for all physicians and health professionals dealing with congenital anomalies of the kidney and urinary tract. Alan B. Retik, M.D. Urologist-in-Chief Emeritus Boston Children’s Hospital Professor of Surgery Harvard Medical School Boston, MA, USA Pref ace C ongenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of morbidity in children. They occur in 5–10 % of the population and represent 25 % of sonographically diagnosed fetal malformations. In addition, these anomalies occur in about a quarter of patients with chromosomal aberrations and two-thirds of patients with abnormalities of other organ systems. Some CAKUT are minor; others are major leading to obstruction, urinary tract infection, renal scarring, and chronic kidney disease (CKD). In fact, CAKUT is responsible for most cases of CKD in children. K nowledge concerning terminology, pathogenesis, and treatment of CAKUT has improved signifi cantly over the past two decades. Also, there have been signifi cant advances in the prenatal diagnosis of these anomalies. Improved technology has contributed to better knowledge of the fetal renal function, renal cortex volume and corticomedullary differentiation, as well as prenatal treatment options. A unifi ed position on prenatal urinary tract dilatation was recently adopted by a consortium of healthcare providers with a consensus on terminology, prenatal follow-up, and post- natal recommendations for imaging and institution of prophylactic antibiotics. A lthough the great majority of CAKUT are sporadic and their causes are still unknown, genetic and environmental factors seem to play a major role in their etiol- ogy. Based on animal studies, it is believed that genetic mutations may emerge as the main etiologic cause of CAKUT. Mutations in several renal development genes produce defects in the morphogenesis of the kidney and urinary tract causing CAKUT. Molecular analysis of CAKUT-causing genes is now available for clini- cians. In spite of continued technical and ethical issues, genetic testing has improved our diagnostic capabilities, allowing the prenatal diagnosis of certain renal diseases in at-risk fetuses, and identifying potential renal disease before it has become mani- fest. Identifi cation of a specifi c gene mutation also holds the possibility of correc- tion through gene therapy, although this remains experimental at the present time. A dvances in genetic testing, prenatal diagnosis, fetal surgery, organ transplanta- tion, and surgical treatment of CAKUT have improved the prognosis and quality of life of affected patients. CAKUT have signifi cant impact in clinical medicine and across various specialties , making the book an important reference to pediatricians, ix
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