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renal tubular dysgenesis

HP:2423
Renal tubular dysgenesis EMA immunolabelling in renal tubular dysgenesis Renal tubular dysgenesis Renal tubular dysgenesis Renal tubular dysgenesis Renal tubular dysgenesis Renal tubular dysgenesis Renal tubular dysgenesis Renal tubular dysgenesis Renal tubular dysgenesis Renal tubular dysgenesis

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

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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