Renal agenesis causes: Difference between revisions
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{{Renal agenesis}} | {{Renal agenesis}} | ||
{{CMG}} {{AE}} {{SHA}} | |||
== Overview == | == Overview == | ||
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! colspan="2" |URA or BRA and Some Genetic Disorders | ! colspan="2" |URA or BRA and Some Genetic Disorders | ||
(Modified table from Ultrasound diagnosis of fetal renal abnormalities) | (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> | ||
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|'''Syndrome''' | |'''Syndrome''' | ||
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{| class="wikitable" | {| class="wikitable" | ||
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! colspan="2" |Associated Anomalies in Unilateral Renal Agenesis | ! 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> | ||
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|'''Associated CAKUT''' | |'''Associated CAKUT''' | ||
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* VUR | * VUR (vesicoureteral reflux) | ||
|24% | |24% | ||
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| | | | ||
* PUV | * PUV (posterior urethral valves) | ||
|1% | |1% | ||
|- | |- | ||
| | | | ||
* PUJO | * PUJO (pelviureteric junction obstruction) | ||
|6% | |6% | ||
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! colspan="2" |Extra-renal Anomalies Associated with URA | ! colspan="2" |Extra-renal Anomalies Associated with URA | ||
(Modified table from Congenital Unilateral Renal Agenesis: Prevalence, Prenatal Diagnosis, Associated Anomalies. Data from Two Birth-Defect Registries ) | (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> | ||
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|'''Type''' | |'''Type''' |
Revision as of 10:33, 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 |
|
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% |
|
6% |
|
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, 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
- ↑ 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.
- ↑ 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.
- ↑ 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.