renal agenesis
Image Gallery
[ (||image_reduire{0,60}|inserer_attribut{alt,Unilateral agenesis (20 weeks)}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Unilateral renal agenesis}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Bilateral renal agenesis in a fetus}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Unilateral renal agenesis in caudal regression syndrome with lombosacral (...)}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Unilateral renal agenesis in caudal regression syndrome with lombosacral (...)}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Renal adysplasia (case 11385)}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Renal adysplasia (case 11385)}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Renal adysplasia (case 11385)}) ]
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#)
See also
renal malformations
- renal adysplasia
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#