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Case #11203 - Non-syndromal bilateral non-obstructive renal dysplasia and hepatic microsteatosis

Wednesday 21 March 2007

Synopsis

- non-syndromal bilateral non-obstructive renal dysplasia

  • massive fetal nephromegaly
  • bilateral renal cysts
  • bilateral diffuse renal dysplasia
  • no dilatation of urinary system
  • no malformation associated

- hepatic microsteatosis

Hypothesis

- genetic metabolic disease with renal dysplasia (inherited metabolic disease with renal dysplasia) ?

References

- Sase M, Tsukahara M, Oga A, Kaneko N, Nakata M, Saito T, Kato H. Diffuse cystic renal dysplasia: nonsyndromal familial case. Am J Med Genet. 1996 May 17;63(2):332-4. PMID: 8725780

- North KN, Hoppel CL, De Girolami U, Kozakewich HP, Korson MS. Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr. 1995 Sep;127(3):414-20. PMID: 7658272

Portfolio

  • Massive bilateral nephromegaly in non-syndromal bilateral non-obstructive (...)
  • Non-syndromal bilateral non-obstructive renal dysplasia
  • Non-syndromal bilateral non-obstructive renal dysplasia
  • Non-syndromal bilateral non-obstructive renal dysplasia