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== Associated anomalies or genetic syndromes in unilateral renal agenesis and bilateral renal agenesis  ==
== 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:
Some associated anomalies or genetic syndromes in unilateral renal agenesis (URA) and bilateral renal agenesis (BRA) include:
{| class="wikitable"
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
|+
|+
! colspan="2" |URA or BRA and Some Genetic Disorders  
! colspan="5" style="background: #4479BA; text-align: center;" | {{fontcolor|#000|'''URA or BRA and Some Genetic Disorders  
(Modified table from Ultrasound diagnosis of fetal renal abnormalities)<ref name="pmid24524801">{{cite journal| author=Dias T, Sairam S, Kumarasiri S| title=Ultrasound diagnosis of fetal renal abnormalities. | journal=Best Pract Res Clin Obstet Gynaecol | year= 2014 | volume= 28 | issue= 3 | pages= 403-15 | pmid=24524801 | doi=10.1016/j.bpobgyn.2014.01.009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24524801  }} </ref>
(Modified table from Ultrasound diagnosis of fetal renal abnormalities)<ref name="pmid24524801">{{cite journal| author=Dias T, Sairam S, Kumarasiri S| title=Ultrasound diagnosis of fetal renal abnormalities. | journal=Best Pract Res Clin Obstet Gynaecol | year= 2014 | volume= 28 | issue= 3 | pages= 403-15 | pmid=24524801 | doi=10.1016/j.bpobgyn.2014.01.009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24524801  }} </ref>'''}}
|-
|-
|'''Syndrome'''
|style="padding: 5px 5px; background: #4479BA;" align="center" |'''Syndrome'''
|'''Gene'''
| colspan="2" style="background:#4479BA; padding: 5px 5px;" align="center" |{{fontcolor|#000|'''Gene'''}}
|-
|-
|Acro–renal–ocular syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|Acro–renal–ocular syndrome  
|SALL 4  
|style="padding: 5px 5px; background: #DCDCDC;|SALL 4  
|-
|-
|Branchio–oto–renal syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|Branchio–oto–renal syndrome  
|
|style="padding: 5px 5px; background: #DCDCDC;|
* EYA1
* EYA1
* SIX1  
* SIX1  
|-
|-
|Ectrodactyly–ectodermal dysplasia–cleft syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|Ectrodactyly–ectodermal dysplasia–cleft syndrome  
|P63  
|style="padding: 5px 5px; background: #DCDCDC;|P63  
|-
|-
|Pallistere Hall syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|Pallistere Hall syndrome  
|GLI3  
|style="padding: 5px 5px; background: #DCDCDC;|GLI3  
|-
|-
|Renal–coloboma syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|Renal–coloboma syndrome  
|PAX2  
|style="padding: 5px 5px; background: #DCDCDC;|PAX2  
|-
|-
|Townes–Brocks syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|Townes–Brocks syndrome  
|SALL1  
|style="padding: 5px 5px; background: #DCDCDC;|SALL1  
|-
|-
|Antley–Bixler syndrome   
|style="padding: 5px 5px; background: #DCDCDC;|Antley–Bixler syndrome   
|FGFR2  
|style="padding: 5px 5px; background: #DCDCDC;|FGFR2  
|-
|-
|[[Fraser syndrome]]   
|style="padding: 5px 5px; background: #DCDCDC;|[[Fraser syndrome]]   
|FRAS1  
|style="padding: 5px 5px; background: #DCDCDC;|FRAS1  
|-
|-
|Smith–Lemli-Opitz syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|Smith–Lemli-Opitz syndrome  
|DHCR7  
|style="padding: 5px 5px; background: #DCDCDC;|DHCR7  
|-
|-
|Goltz–Gorlin syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|Goltz–Gorlin syndrome  
|PORCN  
|style="padding: 5px 5px; background: #DCDCDC;|PORCN  
|-
|-
|[[Kallman syndrome]]  
|style="padding: 5px 5px; background: #DCDCDC;|[[Kallman syndrome]]  
|KAL1  
|style="padding: 5px 5px; background: #DCDCDC;|KAL1  
|-
|-
|Lenz microphthalmia   
|style="padding: 5px 5px; background: #DCDCDC;|Lenz microphthalmia   
|BCOR  
|style="padding: 5px 5px; background: #DCDCDC;|BCOR  
|}
|}
<br />
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
{| class="wikitable"
|+
|+
! colspan="2" |Associated Anomalies in Unilateral  Renal Agenesis<ref name="pmid23449343">{{cite journal| author=Westland R, Schreuder MF, Ket JC, van Wijk JA| title=Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. | journal=Nephrol Dial Transplant | year= 2013 | volume= 28 | issue= 7 | pages= 1844-55 | pmid=23449343 | doi=10.1093/ndt/gft012 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23449343  }} </ref>
! colspan="5" style="background: #4479BA; text-align: center;" | {{fontcolor|#000|'''Associated Anomalies in Unilateral  Renal Agenesis<ref name="pmid23449343">{{cite journal| author=Westland R, Schreuder MF, Ket JC, van Wijk JA| title=Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. | journal=Nephrol Dial Transplant | year= 2013 | volume= 28 | issue= 7 | pages= 1844-55 | pmid=23449343 | doi=10.1093/ndt/gft012 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23449343  }} </ref>'''}}
|-
|-
|'''Associated CAKUT'''  
|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Associated CAKUT'''  
'''(congenital anomalies of the kidney and urinary tract)'''
'''(congenital anomalies of the kidney and urinary tract)'''
|32%
|style="padding: 5px 5px; background: #DCDCDC;|32%
|-
|-
|
|style="padding: 5px 5px; background: #DCDCDC;|
* VUR (vesicoureteral reflux)
* VUR (vesicoureteral reflux)
|24%
|style="padding: 5px 5px; background: #DCDCDC;|24%
|-
|-
|
|style="padding: 5px 5px; background: #DCDCDC;|
* PUV (posterior urethral valves)
* PUV (posterior urethral valves)
|1%
|style="padding: 5px 5px; background: #DCDCDC;|1%
|-
|-
|
|style="padding: 5px 5px; background: #DCDCDC;|
* PUJO (pelviureteric junction obstruction)
* PUJO (pelviureteric junction obstruction)
|6%
|style="padding: 5px 5px; background: #DCDCDC;|6%
|-
|-
|
|style="padding: 5px 5px; background: #DCDCDC;|
* Duplex kidney
* Duplex kidney
|1%
|style="padding: 5px 5px; background: #DCDCDC;|1%
|-
|-
|
|style="padding: 5px 5px; background: #DCDCDC;|
* Ureterocele
* Ureterocele
|1%
|style="padding: 5px 5px; background: #DCDCDC;|1%
|-
|-
|
|style="padding: 5px 5px; background: #DCDCDC;|
* Megaureter
* Megaureter
|7%
|style="padding: 5px 5px; background: #DCDCDC;|7%
|-
|-
|'''Urinary tract infection'''
|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Urinary tract infection'''
|30%
|style="padding: 5px 5px; background: #DCDCDC;|30%
|-
|-
|'''Associated extra-renal anomalies'''
|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Associated extra-renal anomalies'''
|31%
|style="padding: 5px 5px; background: #DCDCDC;|31%
|-
|-
|'''Female tract anomalies'''
|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Female tract anomalies'''
|11%
|style="padding: 5px 5px; background: #DCDCDC;|11%
|}
|}
{| class="wikitable"
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
|+
|+
! colspan="2" |Extra-renal Anomalies Associated with URA  
! colspan="5" style="background: #4479BA; text-align: center;" | {{fontcolor|#000|'''Extra-renal Anomalies Associated with URA  
(Modified table from Congenital Unilateral Renal Agenesis: Prevalence, Prenatal Diagnosis, Associated Anomalies. Data from Two Birth-Defect Registries)<ref name="pmid28722320">{{cite journal| author=Laurichesse Delmas H, Kohler M, Doray B, Lémery D, Francannet C, Quistrebert J | display-authors=etal| title=Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. | journal=Birth Defects Res | year= 2017 | volume= 109 | issue= 15 | pages= 1204-1211 | pmid=28722320 | doi=10.1002/bdr2.1065 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28722320  }} </ref>
(Modified table from Congenital Unilateral Renal Agenesis: Prevalence, Prenatal Diagnosis, Associated Anomalies. Data from Two Birth-Defect Registries)<ref name="pmid28722320">{{cite journal| author=Laurichesse Delmas H, Kohler M, Doray B, Lémery D, Francannet C, Quistrebert J | display-authors=etal| title=Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. | journal=Birth Defects Res | year= 2017 | volume= 109 | issue= 15 | pages= 1204-1211 | pmid=28722320 | doi=10.1002/bdr2.1065 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28722320  }} </ref>'''}}
|-
|-
|'''Type'''  
|style="padding: 5px 5px; background: #4479BA;" align="center" |'''Type'''  
|'''Extra-renal anomalies'''  
|colspan="2" style="background:#4479BA; padding: 5px 5px;" align="center" |{{fontcolor|#000|'''Extra-Renal Anomalies'''}}  
|-
|-
|'''One system'''  
|style="padding: 5px 5px; background: #4479BA;|'''One system'''  
|
|style="padding: 5px 5px; background: #DCDCDC;|
* Face  
* Face  
** Dysmorphic
** Dysmorphic
Line 131: Line 130:
** Developmental ovarian cyst
** Developmental ovarian cyst
|-
|-
|'''Sequences'''
|style="padding: 5px 5px; background: #4479BA;|'''Sequences'''
|
|style="padding: 5px 5px; background: #DCDCDC;|
* VACTERL
* VACTERL
* Caudal regression
* Caudal regression
Line 139: Line 138:
* Sirenomelia  
* Sirenomelia  
|-
|-
|'''Genetic syndromes'''
|style="padding: 5px 5px; background: #4479BA; |'''Genetic syndromes'''
|
|style="padding: 5px 5px; background: #DCDCDC;|
* Bardet-Biedel  
* Bardet-Biedel  
* CHARGE  
* CHARGE  
Line 147: Line 146:
* Goldenhar (OAV)
* Goldenhar (OAV)
|-
|-
|'''Chromosomal anomalies'''
|style="padding: 5px 5px; background: #4479BA;|'''Chromosomal anomalies'''
|
|style="padding: 5px 5px; background: #DCDCDC;|
* Triploidy  
* Triploidy  
* Trisomy 18  
* Trisomy 18  
* Trisomy 9  
* Trisomy 9  
|-
|-
| rowspan="12" |'''Non-identified polymalformative'''
| rowspan="13" style="padding: 5px 5px; background: #4479BA; |'''Non-identified polymalformative syndromes'''
'''syndromes'''  
|- 
|Macrocephaly, hypertelorism   
|style="padding: 5px 5px; background: #DCDCDC;|Macrocephaly, hypertelorism   
|-
|-
|Anencephaly, caudal regression  
|style="padding: 5px 5px; background: #DCDCDC;|Anencephaly, caudal regression  
|-
|-
|Occipital meningoencephalocele, unicornate uterus  
|style="padding: 5px 5px; background: #DCDCDC;|Occipital meningoencephalocele, unicornate uterus  
|-
|-
|Heart defect, limb anomaly  
|style="padding: 5px 5px; background: #DCDCDC;|Heart defect, limb anomaly  
|-
|-
|Tetralogy of Fallot, radial agenesia  
|style="padding: 5px 5px; background: #DCDCDC;|Tetralogy of Fallot, radial agenesia  
|-
|-
|Patent ductus arteriosus, cerebellum hypoplasia, supernumerary hemivertebra, tracheolaryngomalacia, Meckel’s diverticulum, agenesis of eyelashes 
|style="padding: 5px 5px; background: #DCDCDC;|Patent ductus arteriosus, cerebellum hypoplasia, supernumerary hemivertebra, tracheolaryngomalacia, Meckel’s diverticulum, agenesis of eyelashes 
|-
|-
|Common arterial trunk, ambiguous genitalia, imperforate anus, cystic hygroma  
|style="padding: 5px 5px; background: #DCDCDC;|Common arterial trunk, ambiguous genitalia, imperforate anus, cystic hygroma  
|-
|-
|Dandy-Walker, VSD  
|style="padding: 5px 5px; background: #DCDCDC;|Dandy-Walker, VSD  
|-
|-
|Radial agenesia, clubhand, hypoplastic left heart syndrome, transposition of great vessels, agenesis of lung, diaphragmatic hernia, polysplenia  
|style="padding: 5px 5px; background: #DCDCDC;|Radial agenesia, clubhand, hypoplastic left heart syndrome, transposition of great vessels, agenesis of lung, diaphragmatic hernia, polysplenia  
|-
|-
|Spina bifida, stenosis of anus  
|style="padding: 5px 5px; background: #DCDCDC;|Spina bifida, stenosis of anus  
|-
|-
|Vertebral dysplasia, scrotal hypospadias  
|style="padding: 5px 5px; background: #DCDCDC;|Vertebral dysplasia, scrotal hypospadias  
|-
|-
|Imperforate anus, ambiguous genitalia  
|style="padding: 5px 5px; background: #DCDCDC;|Imperforate anus, ambiguous genitalia  
|}
|}


Revision as of 11:01, 30 July 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shakiba Hassanzadeh, MD[2]

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)[1]

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[2]
Associated CAKUT

(congenital anomalies of the kidney and urinary tract)

32%
  • VUR (vesicoureteral reflux)
 24%
  • PUV (posterior urethral valves)
 1%
  • PUJO (pelviureteric junction obstruction)
 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)[3]

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

  1. ↑ Dias T, Sairam S, Kumarasiri S (2014). "Ultrasound diagnosis of fetal renal abnormalities". Best Pract Res Clin Obstet Gynaecol. 28 (3): 403–15. doi:10.1016/j.bpobgyn.2014.01.009. PMID 24524801.
  2. ↑ Westland R, Schreuder MF, Ket JC, van Wijk JA (2013). "Unilateral renal agenesis: a systematic review on associated anomalies and renal injury". Nephrol Dial Transplant. 28 (7): 1844–55. doi:10.1093/ndt/gft012. PMID 23449343.
  3. ↑ Laurichesse Delmas H, Kohler M, Doray B, Lémery D, Francannet C, Quistrebert J; et al. (2017). "Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries". Birth Defects Res. 109 (15): 1204–1211. doi:10.1002/bdr2.1065. PMID 28722320.

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