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renal tubular dysgenesis

Thursday 19 February 2004

Renal tubular dysgenesis is a rare condition defined by the histopathologic findings of a paucity or absence of proximal tubules in the kidney.

Clinical synopsis

- oligohydramnios with Potter sequence (oligohydramnios sequence)
- prematurity
- renal size and gross morphology generally normal

Microscopical synopsis

- absence of proximal tubular differentiation
- all tubules are EMA+
- paucity of proximal tubules
- crowding of glomeruli
- renal tubules are short, lack convolutions and connections to the collecting tree
- reduced number of papillary ductal pores

Etiology

- familial renal tubular dysgenesis (autosomal recessive inheritance) (12908573): homozygous or compound heterozygous mutations in the genes encoding

    • renin (REN)
    • angiotensinogen (AGT)
    • angiotensin converting enzyme (ACE)
    • angiotensin II receptor type 1 (AGTR1)

- sporadic renal tubular dysgenesis

  • in utero exposure to non-steroidal anti-inflammatory agents (NSAIDs fetopathy)
    • in utero exposure to piroxicam
  • unilateral renal tubular dysgenesis

References

- Benini D, Fanos V, Cuzzolin L, Tato L. In utero exposure to nonsteroidal anti-inflammatory drugs: neonatal renal failure. Pediatr Nephrol. 2004 Feb;19(2):232-4. PMID: 14648334

- Lasaitiene D, Chen Y, Guron G, Marcussen N, Tarkowski A, Telemo E, Friberg P. Perturbed medullary tubulogenesis in neonatal rat exposed to renin-angiotensin system inhibition. Nephrol Dial Transplant. 2003 Dec;18(12):2534-41. PMID: 14605275

- Kaplan BS, Restaino I, Raval DS, Gottlieb RP, Bernstein J. Renal failure in the neonate associated with in utero exposure to non-steroidal anti-inflammatory agents. Pediatr Nephrol. 1994 Dec;8(6):700-4. PMID: 7696108

- Jain V, Beneck D. Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review. Pediatr Dev Pathol. 2003 Nov-Dec;6(6):568-72. PMID: 15018458

- Kumral A, Duman N, Gulcan H, Sarioglu S, Tuncer C, Ozkan H. Renal tubular dysgenesis and multiple intestinal perforation. Pediatr Dev Pathol. 2003 Jan-Feb;6(1):96-8. Epub 2002 Nov 27. PMID: 12447649

- Moldavsky M. Lysozyme immunostaining in renal tubular dysgenesis. Pediatr Dev Pathol. 2000 Mar-Apr;3(2):200-1. No abstract available. PMID: 10679040

- Oberg KC, Pestaner JP, Bielamowicz L, Hawkins EP. Renal tubular dysgenesis in twin-twin transfusion syndrome. Pediatr Dev Pathol. 1999 Jan-Feb;2(1):25-32. PMID: 9841703

- Johal JS, Thorp JW, Oyer CE. Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. Pediatr Dev Pathol. 1998 Sep-Oct;1(5):433-7. PMID: 9688768

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