Renal tubular dysgenesis

Definition:

Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading to oligohydramnios sequence. Homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1 may cause RTD. These genes are renin-angiotensin system components which regulate renal growth during embryogenesis.

References:

[1]. A Tufro-McReddie, et al. Angiotensin II type 1 receptor: role in renal growth and gene expression during normal development. Am J Physiol. 1994 Jun;266(6 Pt 2):F911-8. [Content Brief]

[2]. Geneviève Benoit, et al. Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes. Ann N Y Acad Sci. 2010 Dec;1214:83-98. [Content Brief]

[3]. Marie Claire Gubler, et al. Renin-angiotensin system in kidney development: renal tubular dysgenesis. Kidney Int. 2010 Mar;77(5):400-6. [Content Brief]

[4]. Olivier Gribouval, et al. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet. 2005 Sep;37(9):964-8. [Content Brief]

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