Renal tubular dysgenesis

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.

Developmental disorder; Kidney disease

REN [HSA:5972] [KO:K01380]
AGT [HSA:183] [KO:K09821]
ACE [HSA:1636] [KO:K01283]
AGTR1 [HSA:185] [KO:K04166]

PMID:20969579 (description, gene)

Benoit G, Machuca E, Heidet L, Antignac C

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.

Ann N Y Acad Sci 1214:83-98 (2010)

PMID:19924102 (description, gene)

Gubler MC, Antignac C

Renin-angiotensin system in kidney development: renal tubular dysgenesis.

Kidney Int 77:400-6 (2010)

PMID:16116425 (gene)

Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC

Mutations in genes in the renin-angiotensin system are associated with autosomal  recessive renal tubular dysgenesis.

Nat Genet 37:964-8 (2005)

PMID:8023970 (description)

Tufro-McReddie A, Johns DW, Geary KM, Dagli H, Everett AD, Chevalier RL, Carey RM, Gomez RA

Angiotensin II type 1 receptor: role in renal growth and gene expression during normal development.

Am J Physiol 266:F911-8 (1994)