Renal agenesis causes: Difference between revisions

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* VUR (vesicoureteral reflux)
*[[Vesicoureteral reflux|VUR (vesicoureteral reflux)]]
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* PUV (posterior urethral valves)
*[[Posterior urethral valves|PUV (posterior urethral valves)]]
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* Ureterocele
*[[Ureterocele]]
|style="padding: 5px 5px; background: #DCDCDC;|1%
|style="padding: 5px 5px; background: #DCDCDC;|1%
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* Megaureter
*[[Megaureter]]
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* Face  
* Face  
** Dysmorphic
**[[Dysmorphic feature|Dysmorphic]]
* Thorax   
* Thorax   
** Diaphragmatic hernia  
**[[Diaphragmatic hernia]]
** Thoracic haemangioma
** Thoracic [[Hemangioma|haemangioma]]
* Lung
* Lung
** Congenital lung cyst  
** Congenital lung cyst  
* Heart  
* Heart  
** ASD
**[[Atrial septal defect|ASD]]
** VSD
**[[Ventricular septal defect|VSD]]
* Skull, spine, and skeleton
* Skull, spine, and skeleton
** Dysraphism parieto-occipital  
** Dysraphism parieto-occipital
** Spina bifida
**[[Spina bifida]]
** Hemivertebra  
** Hemivertebra  
** Coccygeal congenital fistula  
**[[Coccyx|Coccygeal]] congenital fistula
** Radial agenesia  
** Radial agenesia  
** Hexadactyly  
** Hexadactyly  
** Club foot  
**[[Club foot]]  
* Genital or urinary tract
* Genital or urinary tract
** Hypospadias  
**[[Hypospadias]]
** Epispadias  
**[[Epispadias]]
** Developmental ovarian cyst
** Developmental [[ovarian cyst]]
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|style="padding: 5px 5px; background: #4479BA;|'''Sequences'''
|style="padding: 5px 5px; background: #4479BA;|'''Sequences'''
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|style="padding: 5px 5px; background: #DCDCDC;|
* VACTERL
*[[VACTERL association]]
* Caudal regression
*[[Caudal regression syndrome|Caudal regression]]
* Coelosomia
* Coelosomia
* Limb body wall complex  
* Limb body wall complex  
* Sirenomelia  
*[[Sirenomelia]]  
|-
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|style="padding: 5px 5px; background: #4479BA; |'''Genetic syndromes'''
|style="padding: 5px 5px; background: #4479BA; |'''Genetic syndromes'''
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* Bardet-Biedel  
* Bardet-Biedel  
* CHARGE  
*[[CHARGE syndrome]]   
* Fanconi anemia  
*[[Fanconi anemia]]
* Fraser
*[[Fraser syndrome]]
* Goldenhar (OAV)
*[[Goldenhar syndrome]]
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|style="padding: 5px 5px; background: #4479BA;|'''Chromosomal anomalies'''
|style="padding: 5px 5px; background: #4479BA;|'''Chromosomal anomalies'''
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* Triploidy  
*[[Polyploidy|Triploidy]]
* Trisomy 18  
*[[Edwards syndrome|Trisomy 18]]
* Trisomy 9  
*[[Trisomy 9]]
|-
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| rowspan="13" style="padding: 5px 5px; background: #4479BA; |'''Non-identified polymalformative syndromes'''
| rowspan="13" style="padding: 5px 5px; background: #4479BA; |'''Non-identified polymalformative syndromes'''
|- 
|- 
|style="padding: 5px 5px; background: #DCDCDC;|Macrocephaly, hypertelorism 
|style="padding: 5px 5px; background: #DCDCDC;|[[Macrocephaly]], [[hypertelorism]] 
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;|Anencephaly, caudal regression  
|style="padding: 5px 5px; background: #DCDCDC;|[[Anencephaly]], [[Caudal regression syndrome|caudal regression]]  
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;|Occipital meningoencephalocele, unicornate uterus  
|style="padding: 5px 5px; background: #DCDCDC;|[[Occipital]] meningoencephalocele, unicornate [[uterus]]  
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;|Heart defect, limb anomaly  
|style="padding: 5px 5px; background: #DCDCDC;|Heart defect, limb [[anomaly]]  
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;|Tetralogy of Fallot, radial agenesia  
|style="padding: 5px 5px; background: #DCDCDC;|[[Tetralogy of Fallot]], radial agenesia  
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;|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, [[Laryngomalacia|tracheolaryngomalacia]], [[Meckel's diverticulum|Meckel’s diverticulum]], agenesis of eyelashes 
|-
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|style="padding: 5px 5px; background: #DCDCDC;|Common arterial trunk, ambiguous genitalia, imperforate anus, cystic hygroma  
|style="padding: 5px 5px; background: #DCDCDC;|Common arterial trunk, [[Intersexuality|ambiguous genitali]]<nowiki/>a, [[imperforate anus]], [[Lymphangioma|cystic hygroma]]  
|-
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|style="padding: 5px 5px; background: #DCDCDC;|Dandy-Walker, VSD  
|style="padding: 5px 5px; background: #DCDCDC;|[[Dandy-Walker syndrome]], [[Ventricular septal defect|VSD]]  
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;|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 the great vessels|transposition of great vessels]], agenesis of lung, [[diaphragmatic hernia]], [[polysplenia]]  
|-
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|style="padding: 5px 5px; background: #DCDCDC;|Spina bifida, stenosis of anus  
|style="padding: 5px 5px; background: #DCDCDC;|[[Spina bifida]], stenosis of anus  
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;|Vertebral dysplasia, scrotal hypospadias  
|style="padding: 5px 5px; background: #DCDCDC;|[[Vertebra|Vertebral]] dysplasia, scrotal [[hypospadias]]  
|-
|-
|style="padding: 5px 5px; background: #DCDCDC;|Imperforate anus, ambiguous genitalia  
|style="padding: 5px 5px; background: #DCDCDC;|[[Imperforate anus]], [[Intersexuality|ambiguous genitalia]]  
|}
|}


Revision as of 11:10, 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%
24%
1%
  • PUJO (pelviureteric junction obstruction)
 6%
  • Duplex kidney
 1%
1%
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
Sequences
Genetic syndromes
Chromosomal anomalies
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 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  

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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