Renal agenesis causes: Difference between revisions

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== Overview ==
 
== Causes ==
 
== Associated anomalies or genetic syndromes in unilateral renal agenesis and bilateral renal agenesis  ==
Some associated anomalies or genetic syndromes in unilateral renal agenesis (URA) and bilateral renal agenesis (BRA) include:
{| class="wikitable"
|+
! colspan="2" |URA or BRA and Some Genetic Disorders  
(Modified table from Ultrasound diagnosis of fetal renal abnormalities)
|-
|'''Syndrome'''
|'''Gene'''
|-
|Acro–renal–ocular syndrome  
|SALL 4  
|-
|Branchio–oto–renal syndrome  
|
* EYA1
* SIX1  
|-
|Ectrodactyly–ectodermal dysplasia–cleft syndrome  
|P63  
|-
|Pallistere Hall syndrome  
|GLI3  
|-
|Renal–coloboma syndrome  
|PAX2  
|-
|Townes–Brocks syndrome  
|SALL1  
|-
|Antley–Bixler syndrome 
|FGFR2  
|-
|[[Fraser syndrome]] 
|FRAS1  
|-
|Smith–Lemli-Opitz syndrome  
|DHCR7  
|-
|Goltz–Gorlin syndrome  
|PORCN  
|-
|[[Kallman syndrome]]  
|KAL1  
|-
|Lenz microphthalmia 
|BCOR  
|}
<br />
{| class="wikitable"
|+
! colspan="2" |Associated Anomalies in Unilateral Renal Agenesis
|-
|'''Associated CAKUT'''
'''(congenital anomalies of the kidney and urinary tract)'''
|32%
|-
|
* VUR
|24%
|-
|
* PUV
|1%
|-
|
* PUJO
|6%
|-
|
* Duplex kidney
|1%
|-
|
* Ureterocele
|1%
|-
|
* Megaureter
|7%
|-
|'''Urinary tract infection'''
|30%
|-
|'''Associated extra-renal anomalies'''
|31%
|-
|'''Female tract anomalies'''
|11%
|}
{| class="wikitable"
|+
! colspan="2" |Extra-renal Anomalies Associated with URA  
(Modified table from Congenital Unilateral Renal Agenesis: Prevalence, Prenatal Diagnosis, Associated Anomalies. Data from Two Birth-Defect Registries )
|-
|'''Type'''  
|'''Extra-renal anomalies'''  
|-
|'''One system'''
|
* Face  
** Dysmorphic
* Thorax   
** Diaphragmatic hernia
** Thoracic haemangioma
* Lung
** Congenital lung cyst
* Heart
** ASD
** VSD
* Skull, spine, and skeleton
** Dysraphism parieto-occipital
** Spina bifida
** Hemivertebra
** Coccygeal congenital fistula
** Radial agenesia
** Hexadactyly
** Club foot  
* Genital or urinary tract
** Hypospadias
** Epispadias
** Developmental ovarian cyst
|-
|'''Sequences'''
|
* VACTERL
* Caudal regression
* Coelosomia
* Limb body wall complex  
* Sirenomelia  
|-
|'''Genetic syndromes'''
|
* Bardet-Biedel  
* CHARGE  
* Fanconi anemia
* Fraser
* Goldenhar (OAV)
|-
|'''Chromosomal anomalies'''
|
* Triploidy
* Trisomy 18
* Trisomy 9
|-
| rowspan="12" |'''Non-identified polymalformative'''
'''syndromes'''  
|Macrocephaly, hypertelorism 
|-
|Anencephaly, caudal regression  
|-
|Occipital meningoencephalocele, unicornate uterus  
|-
|Heart defect, limb anomaly  
|-
|Tetralogy of Fallot, radial agenesia  
|-
|Patent ductus arteriosus, cerebellum hypoplasia, supernumerary hemivertebra, tracheolaryngomalacia, Meckel’s diverticulum, agenesis of eyelashes 
|-
|Common arterial trunk, ambiguous genitalia, imperforate anus, cystic hygroma  
|-
|Dandy-Walker, VSD  
|-
|Radial agenesia, clubhand, hypoplastic left heart syndrome, transposition of great vessels, agenesis of lung, diaphragmatic hernia, polysplenia  
|-
|Spina bifida, stenosis of anus  
|-
|Vertebral dysplasia, scrotal hypospadias  
|-
|Imperforate anus, ambiguous genitalia  
|}


==References==
==References==

Revision as of 10:27, 30 July 2020

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Overview

Causes

Associated anomalies or genetic syndromes in unilateral renal agenesis and bilateral renal agenesis

Some associated anomalies or genetic syndromes in unilateral renal agenesis (URA) and bilateral renal agenesis (BRA) include:

URA or BRA and Some Genetic Disorders  

(Modified table from Ultrasound diagnosis of fetal renal abnormalities)

Syndrome Gene
Acro–renal–ocular syndrome   SALL 4  
Branchio–oto–renal syndrome  
  • EYA1
  • SIX1  
Ectrodactyly–ectodermal dysplasia–cleft syndrome   P63  
Pallistere Hall syndrome   GLI3  
Renal–coloboma syndrome   PAX2  
Townes–Brocks syndrome   SALL1  
Antley–Bixler syndrome  FGFR2  
Fraser syndrome  FRAS1  
Smith–Lemli-Opitz syndrome   DHCR7  
Goltz–Gorlin syndrome   PORCN  
Kallman syndrome   KAL1  
Lenz microphthalmia  BCOR  


Associated Anomalies in Unilateral Renal Agenesis
Associated CAKUT

(congenital anomalies of the kidney and urinary tract)

32%
  • VUR
 24%
  • PUV
 1%
  • PUJO
 6%
  • Duplex kidney
 1%
  • Ureterocele
 1%
  • Megaureter
 7%
Urinary tract infection 30%
Associated extra-renal anomalies 31%
Female tract anomalies 11%
Extra-renal Anomalies Associated with URA  

(Modified table from Congenital Unilateral Renal Agenesis: Prevalence, Prenatal Diagnosis, Associated Anomalies. Data from Two Birth-Defect Registries )

Type   Extra-renal anomalies  
One system
  • Face  
    • Dysmorphic
  • Thorax  
    • Diaphragmatic hernia
    • Thoracic haemangioma
  • Lung
    • Congenital lung cyst
  • Heart
    • ASD
    • VSD
  • Skull, spine, and skeleton
    • Dysraphism parieto-occipital
    • Spina bifida
    • Hemivertebra
    • Coccygeal congenital fistula
    • Radial agenesia
    • Hexadactyly
    • Club foot  
  • Genital or urinary tract
    • Hypospadias
    • Epispadias
    • Developmental ovarian cyst
Sequences
  • VACTERL
  • Caudal regression
  • Coelosomia
  • Limb body wall complex  
  • Sirenomelia  
Genetic syndromes
  • Bardet-Biedel  
  • CHARGE  
  • Fanconi anemia
  • Fraser
  • Goldenhar (OAV)
Chromosomal anomalies
  • Triploidy
  • Trisomy 18
  • Trisomy 9
Non-identified polymalformative

syndromes  

Macrocephaly, hypertelorism 
Anencephaly, caudal regression  
Occipital meningoencephalocele, unicornate uterus  
Heart defect, limb anomaly  
Tetralogy of Fallot, radial agenesia  
Patent ductus arteriosus, cerebellum hypoplasia, supernumerary hemivertebra, tracheolaryngomalacia, Meckel’s diverticulum, agenesis of eyelashes 
Common arterial trunk, ambiguous genitalia, imperforate anus, cystic hygroma  
Dandy-Walker, VSD  
Radial agenesia, clubhand, hypoplastic left heart syndrome, transposition of great vessels, agenesis of lung, diaphragmatic hernia, polysplenia  
Spina bifida, stenosis of anus  
Vertebral dysplasia, scrotal hypospadias  
Imperforate anus, ambiguous genitalia  

References

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