Renal hypodysplasia and aplasia

Definition:

Renal hypodysplasia and aplasia (RHDA) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHDA with various severity.

References:

[1]. Camille Humbert, et al. Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. Am J Hum Genet. 2014 Feb 6;94(2):288-94. [Content Brief]

[2]. Dagan Jenkins, et al. De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol. 2005 Jul;16(7):2141-9. [Content Brief]

[3]. Eva-Maria Schönfelder, et al. Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am J Kidney Dis. 2006 Jun;47(6):1004-12. [Content Brief]

[4]. Hila Barak, et al. FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. Dev Cell. 2012 Jun 12;22(6):1191-207. [Content Brief]

[5]. Lara De Tomasi, et al. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. Am J Hum Genet. 2017 Nov 2;101(5):803-814. [Content Brief]

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