Difference between revisions of "Renal agenesis causes"

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== Overview ==
== Overview ==
<br />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.
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:
Some associated anomalies, [[Genetics|genetic]] syndromes and [[Teratology|teratogenic]] causes of renal agenesis include:

Revision as of 13:21, 2 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]


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.


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

Associated Anomalies in Unilateral Renal Agenesis[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)

Urinary tract infection 30%
Associated extra-renal anomalies 31%
Female tract anomalies 11%
URA or BRA and Some Genetic Disorders  

(Modified table from Ultrasound diagnosis of fetal renal abnormalities)[2]

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  
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 effected system/organ
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  

Teratogenic Causes Associated with Renal Agenesis:[4][5][6]


  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. 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.
  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.
  4. 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.
  5. 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.
  6. 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.