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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

- syndromal bilateral renal agenesis

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

  • 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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