Papillorenal syndrome: Difference between revisions
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{{Infobox Disease | {{Infobox Disease | ||
| Name = Papillorenal syndrome | | Name = Papillorenal syndrome | ||
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| OMIM = 120330 | | OMIM = 120330 | ||
| MedlinePlus = | | MedlinePlus = | ||
| MeshID = | | MeshID = | ||
}} | }} | ||
{{ | {{Papillorenal syndrome }} | ||
'''For patient information click [[{{PAGENAME}} (patient information)|here]]''' | |||
{{CMG}} | {{CMG}} | ||
==[[Papillorenal syndrome overview|Overview]]== | |||
==[[Papillorenal syndrome historical perspective|Historical Perspective]]== | |||
==[[Papillorenal syndrome classification|Classification]]== | |||
==[[Papillorenal syndrome pathophysiology|Pathophysiology]]== | |||
==[[Papillorenal syndrome causes|Causes]]== | |||
==[[Papillorenal syndrome differential diagnosis|Differentiating Papillorenal syndrome from other Diseases]]== | |||
==[[Papillorenal syndrome epidemiology and demographics|Epidemiology and Demographics]]== | |||
==[[Papillorenal syndrome risk factors|Risk Factors]]== | |||
==[[Papillorenal syndrome screening|Screening]]== | |||
==[[Papillorenal syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]== | |||
==Diagnosis== | |||
[[Papillorenal syndrome diagnostic criteria|Diagnostic Criteria]] | [[Papillorenal syndrome history and symptoms|History and Symptoms]] | [[Papillorenal syndrome physical examination|Physical Examination]] | [[Papillorenal syndrome MRI|MRI]] | [[Papillorenal syndrome echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Papillorenal syndrome other imaging findings|Other Imaging Findings]] | [[Papillorenal syndrome other diagnostic studies|Other Diagnostic Studies]] | |||
==Treatment== | |||
[[Papillorenal syndrome medical therapy|Medical Therapy]] | [[Papillorenal syndrome surgery|Surgery]] | [[Papillorenal syndrome primary prevention|Primary Prevention]] | [[Papillorenal syndrome secondary prevention|Secondary Prevention]] | [[Papillorenal syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Papillorenal syndrome future or investigational therapies|Future or Investigational Therapies]] | |||
==Case Studies== | |||
[[Papillorenal syndrome case study one|Case #1]] | |||
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{{Congenital malformations of genital organs and urinary system}} | {{Congenital malformations of genital organs and urinary system}} | ||
[[Category:Kidney diseases]] | [[Category:Kidney diseases]] | ||
Revision as of 13:45, 27 September 2012
| Papillorenal syndrome | |
| OMIM | 120330 |
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| DiseasesDB | 32086 |
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Papillorenal syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Papillorenal syndrome On the Web |
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American Roentgen Ray Society Images of Papillorenal syndrome |
For patient information click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Papillorenal syndrome from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Criteria | History and Symptoms | Physical Examination | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
Papillorenal syndrome, also called Renal-coloboma syndrome, is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.[1]
Pathophysiology
The syndrome results from mutation of a copy of the PAX2 gene,[1] a gene which is important in the development of both the eye and the kidney.
References
- ↑ 1.0 1.1 Online Mendelian Inheritance in Man (OMIM) 120330