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renal agenesis

Renal aplasia

 

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

-  renal malformations


Unilateral agenesis (20 weeks) - Polymalformative syndrome

Unilateral renal agenesis

Renal adysplasia

Renal adysplasia

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