Talk:Renal System - Abnormalities: Difference between revisions

From Embryology
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* Urethra- Urethral Obstruction and Hypospadias
* Urethra- Urethral Obstruction and Hypospadias


===Polycystic Kidney Disease===
[[File:Multicystic kidney.jpg|thumb|Multicystic kidney]]
* diffuse cystic malformation of both kidneys
* cystic malformations of liver and lung often associated, Often familial disposition
* Two types
** Infantile (inconsistent with prolonged survival)
** Adult (less severe and allows survival)
* Autosomal dominant PKD disease - recently identified at mutations in 2 different human genes encoding membrane proteins (possibly channels)


===Wilms' Tumor===
===Wilms' Tumor===

Revision as of 11:47, 3 June 2010

  • Renal ectopy
  • Renal fusion
  • asymptomatic renal ectopia


Urorectal Septum Malformation

  • thought to be a deficiency in caudal mesoderm which in turn leads to the malformation of the urorectal septum and other structures in the pelvic region.
  • Recent research has also identified the potential presence of a persistent urachus prior to septation of the cloaca (common urogenital sinus).

Bladder

  • absent or small bladder -

associated with renal agenesis.

Bladder Exstrophy

Bladder_Exstrophy
  • developmental abnormality associated with bladder development.
  • origins appear to occur not just by abnormal bladder development, but by a congenital malformation of the ventral wall of abdomen (between umbilicus and pubic symphysis).
  • There may also be other anomolies associated with failure of closure of abdominal wall and bladder (epispadias, pubic bone anomolies).

Ureter and Urethra

  • Ureter - Duplex Ureter
  • Urethra- Urethral Obstruction and Hypospadias


Wilms' Tumor

  • (nephroblastoma) Named after Max Wilms, a German doctor who wrote first medical articles 1899
  • most common type of kidney cancer children
  • WT1 gene - encodes a zinc finger protein
  • Both constitutional and somatic mutations disrupting the DNA-binding domain of WT1 result in a potentially dominant-negative phenotype
  • some blastema cells (mass of undifferentiated cells) persist to form a ‘nephrogenic rest’
  • Most rests become dormant or regress but others proliferate to form hyperplastic rests
  • any type of rest can then undergo a genetic or epigenetic change to become a neoplastic rest
  • can proliferate further to produce a benign lesion (adenomatous rest) or a malignant Wilms’ tumour