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familial renal tubular dysgenesis

 

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

-  renal tubular dysgenesis

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#


EMA labelling in renal tubular dysgenesis








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