Talk:Renal System - Abnormalities: Difference between revisions
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* Renal fusion | * Renal fusion | ||
* asymptomatic renal ectopia | * asymptomatic renal ectopia | ||
==Abnormalities== | |||
[[File:Australian_abnormalities_pie_urogen.png|left]] | |||
===Horseshoe Kidney=== | |||
[[File:Horseshoe kidney.jpg|thumb|Horseshoe kidney]] | |||
* fusion of the lower poles of the kidney. | |||
* During migration from the sacral region the two metanephric blastemas can come into contact, mainly at the lower pole. | |||
* The ureters pass in front of the zone of fusion of the kidneys. | |||
* The kidneys and ureters usually function adequately but there is an increased incidence of upper urinary tract obstruction or infection. | |||
* Some horseshoe variations have been described as having associated ureter abnormalities including duplications. | |||
===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=== | |||
[[File:Bladder_Exstrophy.jpg|thumb|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 | |||
===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=== | |||
* (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 | |||
=== Prune Belly Syndrome === | |||
<gallery> | |||
File:Hydronephrosis.jpg| | |||
File:Renal_outflow_obstruction.jpg| | |||
File:Prune_belly.jpg|Prune_belly | |||
</gallery> | |||
* lower urinary tract obstruction | |||
* mainly male | |||
* fetal urinary system ruptures leading to collapse and "prune belly" appearance. |
Revision as of 10:39, 3 June 2010
- Renal ectopy
- Renal fusion
- asymptomatic renal ectopia
Abnormalities
Horseshoe Kidney
- fusion of the lower poles of the kidney.
- During migration from the sacral region the two metanephric blastemas can come into contact, mainly at the lower pole.
- The ureters pass in front of the zone of fusion of the kidneys.
- The kidneys and ureters usually function adequately but there is an increased incidence of upper urinary tract obstruction or infection.
- Some horseshoe variations have been described as having associated ureter abnormalities including duplications.
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
- 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
Polycystic Kidney Disease
- 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
- (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
Prune Belly Syndrome
- lower urinary tract obstruction
- mainly male
- fetal urinary system ruptures leading to collapse and "prune belly" appearance.