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bilateral renal agenesis

Thursday 19 February 2004

MIM.191830

Definiton: Total absence of renal structures after macroscopical AND microscopical examinations.

Synopsis

- absence of renal structures (after macroscopical AND microscopical examinations)
- absence of renal arteries and ureteres
- urinary bladder hypoplastic or agenetic (absent)
- frequent defective urethra
- fetal anuria with oligohydramnios sequence

Types

- isolated bilateral renal agenesis

  • sporadic bilateral renal agenesis
  • familial bilateral renal agenesis
    • RET germline mutations (#18252214#)

- syndromal bilateral renal agenesis

  • Fraser syndrome (MIM.219000) (FRAS1 or FREM2 mutations)
  • branchiootorenal syndrome (MIM.113650) (EYAI mutations at 8q13.3)

Associations

- congenital cystic adenomatoid malformation type 2 (CCAM type 2)
- left heart hypoplasia
- urorectal septum malformation sequence
- anomalies of hindgut
- anomalies of lower urinary tract

- anomalies of internal genitalia

  • female genital malformations (Mullerian anomalies) (#2669483#)
    • uterine malfomations (bicornuate uterus)
    • vaginal malformations
  • male genital malformations
    • epididymal malformations
    • vas deferens malformations

- caudal regression syndrome

  • sirenomelia

- lethal acrofacial dysostosis (#11822708#)

  • mesomelic limb abnormalities
  • pre- and post-axial hand defects

- single umbilical artery (#14745934#)
- phocomelia (#14745934#)

Etiology

- maternal cocaine abuse (#14745934#)
- RET germline mutations (37%) (#18252214#)
- trisomy 22 (#7625758#)
- triploX syndrome (47,XXX) (#2669483#)

Case records

- Case 10783: Bilateral renal agenesis in urinary agenesis

See also:

- renal malformations
- oligohydramnios sequence (Potter sequence)

References

- Skinner MA, Safford SD, Reeves JG, Jackson ME, Freemerman AJ. Renal aplasia in humans is associated with RET mutations. Am J Hum Genet. 2008 Feb;82(2):344-51. PMID: #18252215#

- Hogge WA, Vick DJ, Schnatterly PA, MacMillan RH. Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus. Am J Med Genet. 1989 Jun;33(2):242-3. PMID: #2669483#


- orpha.net
- MIM.191830

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  • Bilateral renal agenesis
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