Clinical feature: 

Definition: Renal tubular dysgenesis is a severe disorder of autosomal recessive inheritance. Anuria already presents in uteri (oligohydramnios) and the children die sonn after birth of pulmonary dysfunction.

Clinical picture: The pregnancy is characterized by oligohydramnios due to fetal anuria. Perinatal death occurs out of pulnonary hypoplasia. Often Renal tubular dysgenesis are present.

Diagnostics: 

Diagnosis: The diagnosis can be made by histomorphology. The kidneys show no or only few differentiated proximal tubules.

Literature: 

Allanson JE et al. (1992) Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.
Allanson JE et al. (1983) Possible new autosomal recessive syndrome with unusual renal histopathological changes.
Barr M et al. (1991) ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection.
Gribouval O et al. (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Hisama FM et al. (1998) Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.
MacMahon P et al. (1990) A further family with congenital renal proximal tubular dysgenesis.
McFadden DE et al. (1997) Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.
Russo R et al. (1991) Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.
Schwartz BR et al. (1986) Isolated congenital renal tubular immaturity in siblings.