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

• in utero exposure to angiotensin-converting enzyme inhibitor (ACEIs fetopathy) (12657763)
• intrauterine fetal ischemia
  • twin-to-twin transfusion syndrome (9841703)
  • acardia

• unilateral renal tubular dysgenesis
  • fetal renal artery stenosis
  • fetal renal vein thrombosis

• endstage renal disease of various causes
• other associations
  • neonatal hemochromatosis (14677054, 9688768)
  • hypoplastic calvaria
  • trisomy 21 (15018458, 14564541)
  • severe cranium hypoplasia (15043673)
  • medullary ray nodules (12644933)

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