Congenital anomalies of kidney and urinary tract

Definition:

Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. The most severe cases of CAKUT (bilateral aplasia, hypoplasia, dysplasia, obstructive uropathy, and reflux nephropathy) are the leading cause of pediatric end-stage renal disease (ESRD) in children. Both genetic abnormalities and the fetal environment contribute to CAKUT.

References:

[1]. Asaf Vivante, et al. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol. 2017 Aug;28(8):2364-2376. [Content Brief]

[2]. Asaf Vivante, et al. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Am J Hum Genet. 2015 Aug 6;97(2):291-301. [Content Brief]

[3]. Laurence Heidet, et al. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. [Content Brief]

[4]. Simone Sanna-Cherchi, et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med. 2013 Aug 15;369(7):621-9. [Content Brief]

[5]. Subramaniyan Ramanathan, et al. Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract. World J Radiol. 2016 Feb 28;8(2):132-41. [Content Brief]

[6]. Valentina P Capone, et al. Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. Int J Mol Sci. 2017 Apr 11;18(4):796. [Content Brief]

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