WAGR syndrome: Difference between revisions
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{{SK}} WAGR complex; Wilms tumor-aniridia syndrome; aniridia-Wilms tumor syndrome; Wilms tumor - aniridia - genitourinary anomalies - mental retardation | {{SK}} WAGR complex; Wilms tumor-aniridia syndrome; aniridia-Wilms tumor syndrome; Wilms tumor - aniridia - genitourinary anomalies - mental retardation | ||
==Overview== | ==Overview== | ||
'''WAGR syndrome''' is a rare genetic [[syndrome]] in which affected children are predisposed to develop [[Wilms' tumor|'''W'''ilms tumor]] (a tumor of the [[kidney]]s), [[aniridia|'''A'''niridia]] (absence of the colored part of the eye, the [[Iris (anatomy)|iris]]), '''G'''enitourinary anomalies, and [[mental retardation|mental '''R'''etardation]].<ref name=Fischbach_2005>{{cite journal | author=Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M | title=WAGR syndrome: a clinical review of 54 cases | journal=Pediatrics | year=2005 | pages=984-8 | volume=116 | issue=4 | id=PMID 16199712}}</ref> The '''G''' is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumors of the gonads ([[testis|testes]] or [[ovary|ovaries]]).<ref name=Clericuzio_2004>{{cite book | author = Clericuzio CL | year = 2004 | title = Management of Genetic Syndromes | chapter = WAGR syndrome | editor = Cassidy SB, Allanson JE | edition = 2nd edition | publisher = John Wiley & Sons | location = New York, NY | id = ISBN 0-471-30870-6 }}</ref> | '''WAGR syndrome''' is a rare genetic [[syndrome]] in which affected children are predisposed to develop [[Wilms' tumor|'''W'''ilms tumor]] (a tumor of the [[kidney]]s), [[aniridia|'''A'''niridia]] (absence of the colored part of the eye, the [[Iris (anatomy)|iris]]), '''G'''enitourinary anomalies, and [[mental retardation|mental '''R'''etardation]].<ref name=Fischbach_2005>{{cite journal | author=Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M | title=WAGR syndrome: a clinical review of 54 cases | journal=Pediatrics | year=2005 | pages=984-8 | volume=116 | issue=4 | id=PMID 16199712}}</ref> The '''G''' is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumors of the gonads ([[testis|testes]] or [[ovary|ovaries]]).<ref name=Clericuzio_2004>{{cite book | author = Clericuzio CL | year = 2004 | title = Management of Genetic Syndromes | chapter = WAGR syndrome | editor = Cassidy SB, Allanson JE | edition = 2nd edition | publisher = John Wiley & Sons | location = New York, NY | id = ISBN 0-471-30870-6 }}</ref> | ||
A subset of WAGR syndrome patients shows severe [[childhood obesity]]; the acronym '''WAGRO''' (O for obesity) has been used to describe this category.<ref name=OMIM>{{OMIM|194072|WAGR syndrome}}</ref> | |||
The condition results from a [[genetic deletion|deletion]] on [[chromosome 11]] resulting in the loss of several [[genes]]. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.<ref name="OMIM"/> | |||
==Historical Perspective== | ==Historical Perspective== | ||
WAGR syndrome was first described by Miller ''et al''.<ref name=Miller_1964>{{cite journal |author=Miller RW, Fraumeni JF, Manning MD |title=Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations |journal=N Engl J Med |volume=270 |issue= |pages=922-7 |year=1964 |id=PMID 14114111}}</ref> | WAGR syndrome was first described by Miller ''et al''.<ref name=Miller_1964>{{cite journal |author=Miller RW, Fraumeni JF, Manning MD |title=Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations |journal=N Engl J Med |volume=270 |issue= |pages=922-7 |year=1964 |id=PMID 14114111}}</ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
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The clinical suspicion for WAGR may be increased with the presence of other genital anomalies. It must be noted that genitourinary anomalies are not always present, particularly in girls. | The clinical suspicion for WAGR may be increased with the presence of other genital anomalies. It must be noted that genitourinary anomalies are not always present, particularly in girls. | ||
In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. It must be noted that while aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Chromosomal analysis is necessary for definitive diagnosis.<ref name=Turleau_1984>{{cite journal |author=Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier J, Chavin-Colin F, Junien C |title=Del11p13/nephroblastoma without aniridia |journal=Hum Genet |volume=67 |issue=4 |pages=455-6 |year=1984 |id=PMID 6092262}}</ref><ref name=Fischbach_2005 /> | In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. It must be noted that while aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Other common eye defects include [[cataract]]s and [[ptosis (eyelid)|ptosis]]. | ||
About 50% of patients develop Wilms' tumor. | |||
Females with WAGR syndrome may have streak ovaries, which can increase their risk for gonadoblastoma. Malformations of the vagina and/or uterus may also be present. | |||
Chromosomal analysis is necessary for definitive diagnosis.<ref name=Turleau_1984>{{cite journal |author=Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier J, Chavin-Colin F, Junien C |title=Del11p13/nephroblastoma without aniridia |journal=Hum Genet |volume=67 |issue=4 |pages=455-6 |year=1984 |id=PMID 6092262}}</ref><ref name=Fischbach_2005 /> | |||
==Treatment== | |||
Children with WAGR syndrome receive regular (3-4 monthly) kidney surveillance for Wilm's tumour until at least the age of 6–8 years and thereafter remain under some follow-up because of the risk of late onset [[nephropathy]] (40% of patients over the age of 12 years). | |||
==See also== | ==See also== | ||
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== External links == | == External links == | ||
* [http://www.wagr.org International WAGR Syndrome Association] | * [http://www.wagr.org International WAGR Syndrome Association] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Disease]] | |||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
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Latest revision as of 17:00, 7 July 2017
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| WAGR syndrome | |
| OMIM | 194072 |
|---|---|
| DiseasesDB | 14025 |
| eMedicine | ped/2423 |
| MeSH | D017624 |
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WikiDoc Resources for WAGR syndrome |
|
Articles |
|---|
|
Most recent articles on WAGR syndrome Most cited articles on WAGR syndrome |
|
Media |
|
Powerpoint slides on WAGR syndrome |
|
Evidence Based Medicine |
|
Clinical Trials |
|
Ongoing Trials on WAGR syndrome at Clinical Trials.gov Trial results on WAGR syndrome Clinical Trials on WAGR syndrome at Google
|
|
Guidelines / Policies / Govt |
|
US National Guidelines Clearinghouse on WAGR syndrome NICE Guidance on WAGR syndrome
|
|
Books |
|
News |
|
Commentary |
|
Definitions |
|
Patient Resources / Community |
|
Patient resources on WAGR syndrome Discussion groups on WAGR syndrome Patient Handouts on WAGR syndrome Directions to Hospitals Treating WAGR syndrome Risk calculators and risk factors for WAGR syndrome
|
|
Healthcare Provider Resources |
|
Causes & Risk Factors for WAGR syndrome |
|
Continuing Medical Education (CME) |
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International |
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|
|
Business |
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Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: WAGR complex; Wilms tumor-aniridia syndrome; aniridia-Wilms tumor syndrome; Wilms tumor - aniridia - genitourinary anomalies - mental retardation
Overview
WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor (a tumor of the kidneys), Aniridia (absence of the colored part of the eye, the iris), Genitourinary anomalies, and mental Retardation.[1] The G is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumors of the gonads (testes or ovaries).[2]
A subset of WAGR syndrome patients shows severe childhood obesity; the acronym WAGRO (O for obesity) has been used to describe this category.[3]
The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.[3]
Historical Perspective
WAGR syndrome was first described by Miller et al.[4]
Pathophysiology
WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region.[3] Specifically, several genes in this area are deleted, including the PAX6 ocular development gene and the Wilms' tumor gene (WT1).[5] Abnormalities in WT1 may also cause genitourinary anomalies. Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas.[5][6][7][8]
Diagnosis
Newborn children with WAGR syndrome are soon noted to have aniridia. The clinical suspicion for WAGR may be increased with the presence of other genital anomalies. It must be noted that genitourinary anomalies are not always present, particularly in girls.
In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. It must be noted that while aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Other common eye defects include cataracts and ptosis.
About 50% of patients develop Wilms' tumor.
Females with WAGR syndrome may have streak ovaries, which can increase their risk for gonadoblastoma. Malformations of the vagina and/or uterus may also be present.
Chromosomal analysis is necessary for definitive diagnosis.[9][1]
Treatment
Children with WAGR syndrome receive regular (3-4 monthly) kidney surveillance for Wilm's tumour until at least the age of 6–8 years and thereafter remain under some follow-up because of the risk of late onset nephropathy (40% of patients over the age of 12 years).
See also
References
- ↑ 1.0 1.1 Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005). "WAGR syndrome: a clinical review of 54 cases". Pediatrics. 116 (4): 984–8. PMID 16199712.
- ↑ Clericuzio CL (2004). "WAGR syndrome". In Cassidy SB, Allanson JE. Management of Genetic Syndromes (2nd edition ed.). New York, NY: John Wiley & Sons. ISBN 0-471-30870-6.
- ↑ 3.0 3.1 3.2 Online Mendelian Inheritance in Man (OMIM) WAGR syndrome -194072
- ↑ Miller RW, Fraumeni JF, Manning MD (1964). "Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations". N Engl J Med. 270: 922–7. PMID 14114111.
- ↑ 5.0 5.1 Glaser T, Jepeal L, Edwards J, Young S, Favor J, Maas R (1994). "PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects". Nat Genet. 7 (4): 463–71. PMID 7951315.
- ↑ Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M (2002). "PAX6 mutation as a genetic factor common to aniridia and glucose intolerance". Diabetes. 51 (1): 224–30. PMID 11756345.
- ↑ Mitchell T, Free S, Williamson K, Stevens J, Churchill A, Hanson I, Shorvon S, Moore A, van Heyningen V, Sisodiya S (2003). "Polymicrogyria and absence of pineal gland due to PAX6 mutation". Ann Neurol. 53 (5): 658–63. PMID 12731001.
- ↑ Talamillo A, Quinn J, Collinson J, Caric D, Price D, West J, Hill R (2003). "Pax6 regulates regional development and neuronal migration in the cerebral cortex". Dev Biol. 255 (1): 151–63. PMID 12618140.
- ↑ Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier J, Chavin-Colin F, Junien C (1984). "Del11p13/nephroblastoma without aniridia". Hum Genet. 67 (4): 455–6. PMID 6092262.
External links