Renal agenesis causes: Difference between revisions

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== Overview ==
== Overview ==
 
Renal agenesis may be associated with CAKUT (congenital [[Anomaly|anomalies]] of the [[kidney]] and [[Urinary system|urinary tract]]) or extra-renal [[Anomaly|anomalies]], [[Genetics|genetic]] syndromes or [[Chromosome|chromosomal disorders]], and sequences.
== Causes ==
== Causes ==
Some associated anomalies, [[Genetics|genetic]] syndromes and [[Teratology|teratogenic]] causes of renal agenesis include:


== 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:
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
|+
! 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>'''}}
|-
|style="padding: 5px 5px; background: #4479BA;" align="center" |'''Syndrome'''
| colspan="2" style="background:#4479BA; padding: 5px 5px;" align="center" |{{fontcolor|#000|'''Gene'''}}
|-
|style="padding: 5px 5px; background: #DCDCDC;|Acro–renal–ocular syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|SALL 4  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Branchio–oto–renal syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|
* EYA1
* SIX1  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Ectrodactyly–ectodermal dysplasia–cleft syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|P63  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Pallistere Hall syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|GLI3  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Renal–coloboma syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|PAX2  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Townes–Brocks syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|SALL1  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Antley–Bixler syndrome 
|style="padding: 5px 5px; background: #DCDCDC;|FGFR2  
|-
|style="padding: 5px 5px; background: #DCDCDC;|[[Fraser syndrome]] 
|style="padding: 5px 5px; background: #DCDCDC;|FRAS1  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Smith–Lemli-Opitz syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|DHCR7  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Goltz–Gorlin syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|PORCN  
|-
|style="padding: 5px 5px; background: #DCDCDC;|[[Kallman syndrome]]  
|style="padding: 5px 5px; background: #DCDCDC;|KAL1  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Lenz microphthalmia 
|style="padding: 5px 5px; background: #DCDCDC;|BCOR  
|}
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
|+
|+
! 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>'''}}
! colspan="5" style="background: #4479BA; text-align: center;" | {{fontcolor|#000|'''Associated Anomalies in Unilateral  Renal Agenesis
(Modified table from Unilateral renal agenesis: a systematic review on associated anomalies and renal injury)<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>'''}}
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''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)'''
([[Vesicoureteral reflux|VUR (vesicoureteral reflux)]], [[Posterior urethral valves|PUV (posterior urethral valves)]], PUJO (pelviureteric junction obstruction), duplex kidney, [[ureterocele]], and [[megaureter]]) 
|style="padding: 5px 5px; background: #DCDCDC;|32%
|style="padding: 5px 5px; background: #DCDCDC;|32%
|-
|style="padding: 5px 5px; background: #DCDCDC;|
*[[Vesicoureteral reflux|VUR (vesicoureteral reflux)]]
|style="padding: 5px 5px; background: #DCDCDC;|24%
|-
|style="padding: 5px 5px; background: #DCDCDC;|
*[[Posterior urethral valves|PUV (posterior urethral valves)]]
|style="padding: 5px 5px; background: #DCDCDC;|1%
|-
|style="padding: 5px 5px; background: #DCDCDC;|
* PUJO (pelviureteric junction obstruction)
|style="padding: 5px 5px; background: #DCDCDC;|6%
|-
|style="padding: 5px 5px; background: #DCDCDC;|
* Duplex kidney
|style="padding: 5px 5px; background: #DCDCDC;|1%
|-
|style="padding: 5px 5px; background: #DCDCDC;|
*[[Ureterocele]]
|style="padding: 5px 5px; background: #DCDCDC;|1%
|-
|style="padding: 5px 5px; background: #DCDCDC;|
*[[Megaureter]]
|style="padding: 5px 5px; background: #DCDCDC;|7%
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Urinary tract infection'''
|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Urinary tract infection'''
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|style="padding: 5px 5px; background: #DCDCDC;|11%
|style="padding: 5px 5px; background: #DCDCDC;|11%
|}
|}
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
|+
|+
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|colspan="2" style="background:#4479BA; padding: 5px 5px;" align="center" |{{fontcolor|#000|'''Extra-Renal Anomalies'''}}  
|colspan="2" style="background:#4479BA; padding: 5px 5px;" align="center" |{{fontcolor|#000|'''Extra-Renal Anomalies'''}}  
|-
|-
|style="padding: 5px 5px; background: #4479BA;|'''One system'''  
|style="padding: 5px 5px; background: #4479BA;|'''One effected system/organ'''
|style="padding: 5px 5px; background: #DCDCDC;|
|style="padding: 5px 5px; background: #DCDCDC;|
* Face  
* Face  
Line 130: Line 64:
** Developmental [[ovarian cyst]]
** Developmental [[ovarian cyst]]
|-
|-
|style="padding: 5px 5px; background: #4479BA;|'''Sequences'''
|style="padding: 5px 5px; background: #4479BA;|'''Associated Sequences'''
|style="padding: 5px 5px; background: #DCDCDC;|
|style="padding: 5px 5px; background: #DCDCDC;|
*[[VACTERL association]]
*[[VACTERL association]]
Line 138: Line 72:
*[[Sirenomelia]]  
*[[Sirenomelia]]  
|-
|-
|style="padding: 5px 5px; background: #4479BA; |'''Genetic syndromes'''
|style="padding: 5px 5px; background: #4479BA; |'''Associated Genetic Syndromes'''
|style="padding: 5px 5px; background: #DCDCDC;|
|style="padding: 5px 5px; background: #DCDCDC;|
* Bardet-Biedel  
* Bardet-Biedel  
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*[[Goldenhar syndrome]]
*[[Goldenhar syndrome]]
|-
|-
|style="padding: 5px 5px; background: #4479BA;|'''Chromosomal anomalies'''
|style="padding: 5px 5px; background: #4479BA;|'''Associated Chromosomal Anomalies'''
|style="padding: 5px 5px; background: #DCDCDC;|
|style="padding: 5px 5px; background: #DCDCDC;|
*[[Polyploidy|Triploidy]]
*[[Polyploidy|Triploidy]]
Line 152: Line 86:
*[[Trisomy 9]]
*[[Trisomy 9]]
|-
|-
| rowspan="13" style="padding: 5px 5px; background: #4479BA; |'''Non-identified polymalformative syndromes'''
| rowspan="13" style="padding: 5px 5px; background: #4479BA; |'''Associated Syndromatic Polymalformations (non-identified)'''
|- 
|- 
|style="padding: 5px 5px; background: #DCDCDC;|[[Macrocephaly]], [[hypertelorism]] 
|style="padding: 5px 5px; background: #DCDCDC;|[[Macrocephaly]], [[hypertelorism]] 
Line 178: Line 112:
|style="padding: 5px 5px; background: #DCDCDC;|[[Imperforate anus]], [[Intersexuality|ambiguous genitalia]]  
|style="padding: 5px 5px; background: #DCDCDC;|[[Imperforate anus]], [[Intersexuality|ambiguous genitalia]]  
|}
|}
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
|+
! 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>'''}}
|-
|style="padding: 5px 5px; background: #4479BA;" align="center" |'''Syndrome'''
| colspan="2" style="background:#4479BA; padding: 5px 5px;" align="center" |{{fontcolor|#000|'''Gene'''}}
|-
|style="padding: 5px 5px; background: #DCDCDC;|Acro–renal–ocular syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|SALL 4  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Branchio–oto–renal syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|
* EYA1
* SIX1  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Ectrodactyly–ectodermal dysplasia–cleft syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|P63  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Pallistere Hall syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|GLI3  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Renal–coloboma syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|PAX2  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Townes–Brocks syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|SALL1  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Antley–Bixler syndrome 
|style="padding: 5px 5px; background: #DCDCDC;|FGFR2  
|-
|style="padding: 5px 5px; background: #DCDCDC;|[[Fraser syndrome]] 
|style="padding: 5px 5px; background: #DCDCDC;|FRAS1  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Smith–Lemli-Opitz syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|DHCR7  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Goltz–Gorlin syndrome  
|style="padding: 5px 5px; background: #DCDCDC;|PORCN  
|-
|style="padding: 5px 5px; background: #DCDCDC;|[[Kallman syndrome]]  
|style="padding: 5px 5px; background: #DCDCDC;|KAL1  
|-
|style="padding: 5px 5px; background: #DCDCDC;|Lenz microphthalmia 
|style="padding: 5px 5px; background: #DCDCDC;|BCOR  
|}
[[Potter syndrome]] may include bilateral renal agenesis (BRA), pulmonary hypoplasia and [[oligohydramnios]].<ref name="pmid18690548">{{cite journal| author=Zaffanello M, Brugnara M, Zuffante M, Franchini M, Fanos V| title=Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution. | journal=Int Urol Nephrol | year= 2009 | volume= 41 | issue= 1 | pages= 127-35 | pmid=18690548 | doi=10.1007/s11255-008-9437-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18690548  }} </ref> ('''''For further information about Potter syndrome, click [[Potter syndrome|here]].''''')
=== Teratogenic Causes Associated with Renal Agenesis:<ref name="pmid16483184">{{cite journal| author=Boix E, Zapater P, Picó A, Moreno O| title=Teratogenicity with angiotensin II receptor antagonists in pregnancy. | journal=J Endocrinol Invest | year= 2005 | volume= 28 | issue= 11 | pages= 1029-31 | pmid=16483184 | doi=10.1007/BF03345344 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16483184  }} </ref><ref name="pmid15910618">{{cite journal| author=Nielsen GL, Nørgard B, Puho E, Rothman KJ, Sørensen HT, Czeizel AE| title=Risk of specific congenital abnormalities in offspring of women with diabetes. | journal=Diabet Med | year= 2005 | volume= 22 | issue= 6 | pages= 693-6 | pmid=15910618 | doi=10.1111/j.1464-5491.2005.01477.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15910618  }} </ref><ref name="pmid15855632">{{cite journal| author=Tse HK, Leung MB, Woolf AS, Menke AL, Hastie ND, Gosling JA | display-authors=etal| title=Implication of Wt1 in the pathogenesis of nephrogenic failure in a mouse model of retinoic acid-induced caudal regression syndrome. | journal=Am J Pathol | year= 2005 | volume= 166 | issue= 5 | pages= 1295-307 | pmid=15855632 | doi=10.1016/S0002-9440(10)62349-8 | pmc=1606386 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15855632  }} </ref>===
*Uncontrolled maternal [[diabetes mellitus]]
*Use of drugs during pregnancy such as those drugs that inhibit the [[renin-angiotensin system]]
*High doses of [[vitamin A]] derivates (in animals)


==References==
==References==

Latest revision as of 10:05, 3 August 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

Renal agenesis may be associated with CAKUT (congenital anomalies of the kidney and urinary tract) or extra-renal anomalies, genetic syndromes or chromosomal disorders, and sequences.

Causes

Some associated anomalies, genetic syndromes and teratogenic causes of renal agenesis include:

Associated Anomalies in Unilateral Renal Agenesis

(Modified table from Unilateral renal agenesis: a systematic review on associated anomalies and renal injury)[1]

Associated CAKUT

(congenital anomalies of the kidney and urinary tract)

(VUR (vesicoureteral reflux), PUV (posterior urethral valves), PUJO (pelviureteric junction obstruction), duplex kidney, ureterocele, and megaureter)

32%
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)[2]

Type   Extra-Renal Anomalies  
One effected system/organ
Associated Sequences
Associated Genetic Syndromes
Associated Chromosomal Anomalies
Associated Syndromatic Polymalformations (non-identified)
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 syndrome, 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  
URA or BRA and Some Genetic Disorders  

(Modified table from Ultrasound diagnosis of fetal renal abnormalities)[3]

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  

Potter syndrome may include bilateral renal agenesis (BRA), pulmonary hypoplasia and oligohydramnios.[4] (For further information about Potter syndrome, click here.)

Teratogenic Causes Associated with Renal Agenesis:[5][6][7]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ Zaffanello M, Brugnara M, Zuffante M, Franchini M, Fanos V (2009). "Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution". Int Urol Nephrol. 41 (1): 127–35. doi:10.1007/s11255-008-9437-5. PMID 18690548.
  5. ↑ Boix E, Zapater P, Picó A, Moreno O (2005). "Teratogenicity with angiotensin II receptor antagonists in pregnancy". J Endocrinol Invest. 28 (11): 1029–31. doi:10.1007/BF03345344. PMID 16483184.
  6. ↑ Nielsen GL, Nørgard B, Puho E, Rothman KJ, Sørensen HT, Czeizel AE (2005). "Risk of specific congenital abnormalities in offspring of women with diabetes". Diabet Med. 22 (6): 693–6. doi:10.1111/j.1464-5491.2005.01477.x. PMID 15910618.
  7. ↑ Tse HK, Leung MB, Woolf AS, Menke AL, Hastie ND, Gosling JA; et al. (2005). "Implication of Wt1 in the pathogenesis of nephrogenic failure in a mouse model of retinoic acid-induced caudal regression syndrome". Am J Pathol. 166 (5): 1295–307. doi:10.1016/S0002-9440(10)62349-8. PMC 1606386. PMID 15855632.

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