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Congenital Anomalies of the Kidney and Urinary Tract: An Overview

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Congenital Anomalies of the Kidney and Urinary Tract

Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of all birth defects As a group, they are the cause of most cases of end-stage renal disease (ESRD) in children. Additionally, they are the most frequent malformations detected by prenatal ultrasound. CAKUT occur in association with nonrenal malformations in about 30 % of cases. In the majority of patients, CAKUT are sporadic; however, mutations in several renal development genes have been identified as etiologic factors. The widespread use and increased sensitivity of fetal ultrasound in identifying CAKUT has led to the frequent diagnosis of these anomalies in utero. It is important to diagnose and initiate therapy in affected patients to minimize renal damage and prevent or delay the onset ESRD. In this chapter, I will present an overview of issues related to the etiology, pathobiology, diagnosis, and clinical management of CAKUT, which will serve as a foundation for more detailed presentation in subsequent chapters.

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Abbreviations

CAKUT:

Congenital anomalies of the kidney and urinary tract

CKD:

Chronic kidney disease

ESRD:

End-stage renal disease

VCUG:

Voiding cystourethrogram

VUR:

Vesicoureteral reflux

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Authors and Affiliations

  1. Departments of Pediatrics, Nephrology, Physiology, Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, 686 Bay Street, 16th Floor, Room 16.9706, Toronto, ON, Canada, M5G0A4

    Norman D. Rosenblum M.D., F.R.C.P.C.

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  1. Norman D. Rosenblum M.D., F.R.C.P.C.
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Correspondence to Norman D. Rosenblum M.D., F.R.C.P.C. .

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Editors and Affiliations

  1. Department of Pediatrics, Georgetown University Medical Center, Washington, District of Columbia, USA

    Amin J. Barakat

  2. Division of Pediatric Urology, Children’, George Washington University School of M, Washington, District of Columbia, USA

    H. Gil Rushton

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Rosenblum, N.D. (2016). Congenital Anomalies of the Kidney and Urinary Tract: An Overview. In: Barakat, A., Rushton, H. (eds) Congenital Anomalies of the Kidney and Urinary Tract. Springer, Cham. https://doi.org/10.1007/978-3-319-29219-9_1

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