renal agenesis

Definition: Complete absence of one or both kidneys. Renal agenesis is thought to result from a lack of induction of the metanephric blastema by the ureteral bud.

Types

 bilateral renal agenesis (1/4500 births)
 unilateral renal agenesis

Synopsis

 autosomal dominant transmission
 complete absence of one or both kidneys
 usually, absence of corresponding uretere and trigona area of the bladder
 short stump od distal ureter possible

Variants

 isolated or associated (1/1000 births)

Association (unilateral renal agenesis)

 renal non-obstructive cystic dysplasia (renal adysplasia)
 Wolffian malformations

• cysts of the epididymis
• cysts of the seminal vesicle
• agenesis of vas deferens
• cystic dysplasia of testis
• cystic dysplasia of rete testis
• ectopia of vas deferens

 mullerian malformations

• ipsilateral absence of fallopian tube
• unicornuate and bicornuate uterus
• bifid uterus (bicornuate uterus)
• uterus didelphys
• total mullerian aplasia
• vaginal atresia (Rokitansky-Kuster-Hauser syndrome) (with uterine agenesis) (8462192, 3591829)

 urorectal septum malformation sequence (ambiguous genitalia with absence of perineal and anal openings)

 association cloacal exstrophy, exomphalos, renal agenesis, ambiguous external genitalia, axial hypotonia withg 9q34.1-qter deletion (15054847)
 familial medullary thyroid carcinoma (FMTC) (RET mutation) (11454140, 10777380)
 Di george syndrome
 focal and segmental glomeruosclerosis
 association of cystic adenomatoid malformation (CCAM type 2 or CPAM) and left heart hypoplasia
 penile agenesis
 cat eye syndrome (partial terasomy 22)
 47,XXX (2669483)

Etiology

 RET mutations (11454140, 18252215)
 ISL1 deletion

• Islet1 Deletion Causes Kidney Agenesis and Hydroureter Resembling CAKUT. Yusuke Kaku et al.JASN 2013, doi : Link)

See also

 renal malformations

• renal adysplasia

References

References

 Islet1 Deletion Causes Kidney Agenesis and Hydroureter Resembling CAKUT. Yusuke Kaku et al.JASN 2013, doi : Link)

 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