bilateral renal agenesis

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