Renal agenesis

Renal agenesis
SpecialtyNephrology

Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop.

Unilateral and bilateral renal agenesis in humans, mice and zebra fish has been linked to mutations in the gene GREB1L.[1] It has also been associated with mutations in the genes RET or UPK3A[2] in humans[3] and mice respectively.

  1. ^ Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR (September 2017). "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans". Genetics. 207 (1): 215–228. doi:10.1534/genetics.117.1125. PMC 5586373. PMID 28739660.
  2. ^ Online Mendelian Inheritance in Man (OMIM): 191830
  3. ^ Rosenblum S, Pal A, Reidy K (April 2017). "Renal development in the fetus and premature infant". Seminars in Fetal & Neonatal Medicine. 22 (2): 58–66. doi:10.1016/j.siny.2017.01.001. PMC 5387761. PMID 28161315.