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- Halima S. Janjua, MD*
- Suet Kam Lam, MD, MPH, MS†
- Vedant Gupta, DO‡
- Sangeeta Krishna, MD†
- *Center for Pediatric Nephrology,
- †Department of Pediatric Hospital Medicine,
- ‡Department of Pediatrics, Cleveland Clinic Children’s, Cleveland, OH
AUTHOR DISCLOSURE
Drs Janjua, Lam, Gupta, and Krishna have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.
- ARPKD:
- autosomal recessive polycystic kidney disease
- CAKUT:
- congenital anomalies of the kidney and urinary tract
- ESRD:
- end-stage renal disease
- MCDK:
- multicystic dysplastic kidney
- PUV:
- posterior urethral valve
- RBUS:
- renal and bladder ultrasonography
- UPJ:
- ureteropelvic junction
- UTI:
- urinary tract infection
- UVJ:
- ureterovesical junction
- VCUG:
- voiding cystourethrogram
- VUR:
- vesicoureteral reflux
Education Gap
Several congenital anomalies of the kidney and urinary tract are incidental findings. An understanding of when to suspect and how to diagnose, manage, and use timely and appropriate investigations and consults is necessary.
Objectives
After completing this article, readers should be able to:
Develop an awareness of various congenital anomalies of the renal system, including embryology, prevalence, and risk factors.
Describe the clinical presentation and management of renal and urinary tract anomalies, including which anomalies warrant further evaluation and the timing and utility of imaging modalities.
Develop an awareness of genetic syndromes affecting the kidneys and urinary tract with associated extrarenal manifestations.
Introduction
Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide spectrum of anomalies, with a reported incidence of up to 2% of births. (1) CAKUT account for almost one-fourth of all birth defects. (2) These are major causes of kidney disease in children and account for more than 40% of end-stage renal disease (ESRD). CAKUT are usually detected by routine prenatal ultrasonography, although some cases are not diagnosed until adulthood. (3)
When renal disease is suspected, a complete physical examination should be performed with particular focus on accurate blood pressure measurement; the abdomen for palpable kidneys and a distended bladder; the genitalia for the position of the meatus, penile abnormalities, and urine flow; and the back for signs of neural tube defects.
Genetics play a major role in the etiology of CAKUT as family history is identified in 10% to 50% of affected children (Table). (4)(5) Similarly, 23% of asymptomatic first-degree relatives are found to be affected on screening. (4) Many environmental …
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