Definition: Complete absence of one or both kidneys.
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
mullerian malformations
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#)
See also