familial renal tubular dysgenesis
Image Gallery
Autosomal recessive inheritance.
Clinical synopsis
Potter sequence
skull ossification defects
neonatal respiratory failure
neonatal renal failure with normal echographic kidneys
fetal and neonatal oligoanuria
Microscopical synopsis
lack of normal proximal tubules
See also
References
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. 2005 Sep;37(9):964-8. PMID: 16116425