renal tubular dysgenesis
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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#