Renal agenesis causes: Difference between revisions
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== Causes == | == Causes == | ||
Some associated anomalies or genetic syndromes in unilateral renal agenesis (URA) and bilateral renal agenesis (BRA) include: | |||
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! 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>'''}} | |||
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|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Associated CAKUT''' | |||
'''(congenital anomalies of the kidney and urinary tract)''' | |||
|style="padding: 5px 5px; background: #DCDCDC;|32% | |||
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*[[Vesicoureteral reflux|VUR (vesicoureteral reflux)]] | |||
|style="padding: 5px 5px; background: #DCDCDC;|24% | |||
|- | |||
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*[[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% | |||
|- | |||
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* Duplex kidney | |||
|style="padding: 5px 5px; background: #DCDCDC;|1% | |||
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*[[Ureterocele]] | |||
|style="padding: 5px 5px; background: #DCDCDC;|1% | |||
|- | |||
|style="padding: 5px 5px; background: #DCDCDC;| | |||
*[[Megaureter]] | |||
|style="padding: 5px 5px; background: #DCDCDC;|7% | |||
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|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Urinary tract infection''' | |||
|style="padding: 5px 5px; background: #DCDCDC;|30% | |||
|- | |||
|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Associated extra-renal anomalies''' | |||
|style="padding: 5px 5px; background: #DCDCDC;|31% | |||
|- | |||
|style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Female tract anomalies''' | |||
|style="padding: 5px 5px; background: #DCDCDC;|11% | |||
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|style="padding: 5px 5px; background: #DCDCDC;|BCOR | |style="padding: 5px 5px; background: #DCDCDC;|BCOR | ||
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|style="padding: 5px 5px; background: #DCDCDC;|[[Imperforate anus]], [[Intersexuality|ambiguous genitalia]] | |style="padding: 5px 5px; background: #DCDCDC;|[[Imperforate anus]], [[Intersexuality|ambiguous genitalia]] | ||
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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> | |||
*Poorly controlled maternal diabetes mellitus | |||
*Use of drugs during pregnancy such as drugs that inhibit the renin-angiotensin system | |||
*High doses of vitamin A derivates (in animals) | |||
==References== | ==References== |
Revision as of 15:41, 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
Some associated anomalies or genetic syndromes in unilateral renal agenesis (URA) and bilateral renal agenesis (BRA) include:
Associated Anomalies in Unilateral Renal Agenesis[1] | ||||
---|---|---|---|---|
Associated CAKUT
(congenital anomalies of the kidney and urinary tract) |
32% | |||
24% | ||||
1% | ||||
|
6% | |||
|
1% | |||
1% | ||||
7% | ||||
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 |
| |||
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 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 |
Teratogenic Causes Associated with Renal Agenesis:[4][5][6]
- Poorly controlled maternal diabetes mellitus
- Use of drugs during pregnancy such as drugs that inhibit the renin-angiotensin system
- High doses of vitamin A derivates (in animals)
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.