Dyskeratosis congenita: Difference between revisions

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{{Dyskeratosis congenita}}
{{Dyskeratosis congenita}}
'''For patient information, click [[Dyskeratosis congenita (patient information)|here]].'''
{{CMG}} {{AE}} {{RT}}
{{CMG}} {{AE}} {{RT}}


'''''Synonyms and keywords''''': Zinsser-Cole-Engman syndrome; X-linked dyskeratosis congenita; Cole-Rauschkolb-Toomey syndrome; DKCX
{{SK}} Cole-Rauschkolb-Toomey syndrome; DKCX; X-linked dyskeratosis congenita; Zinsser-Cole-Engman syndrome; Zinsser-Engman-Cole syndrome


==[[Dyskeratosis congenita overview|Overview]]==
==[[Dyskeratosis congenita overview|Overview]]==
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==Diagnosis==
==Diagnosis==
[[Dyskeratosis congenita history and symptoms|History and Symptoms]] | [[Dyskeratosis congenita physical examination|Physical Examination]] | [[Dyskeratosis congenita laboratory findings|Laboratory Findings]] | [[Electrocardiogram]] | [[Dyskeratosis congenita x ray|X Ray]] | [[CT]] | [[MRI]] | [[Echocardiography or Ultrasound]] | [[Other Imaging Findings]] | [[Other Diagnostic Studies]]
[[Dyskeratosis congenita history and symptoms|History and Symptoms]] | [[Dyskeratosis congenita physical examination|Physical Examination]] | [[Dyskeratosis congenita laboratory findings|Laboratory Findings]] | [[Dyskeratosis congenita electrocardiogram|Electrocardiogram]] | [[Dyskeratosis congenita x ray|X Ray]] | [[Dyskeratosis congenita CT|CT]] | [[Dyskeratosis congenita MRI|MRI]] | [[Dyskeratosis congenita echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Dyskeratosis congenita other imaging findings|Other Imaging Findings]] | [[Dyskeratosis congenita other diagnostic studies|Other Diagnostic Studies]]


==Treatment==
==Treatment==
Recent research has used [[Induced pluripotent stem cell|induced pluripotent stem cells]] to study the disease mechanisms in humans, and discovered that the repgrogramming of somatic cells restores telomere elongation in dyskeratosis congenita cells despite the genetic lesions that affect telomerase.  The reprogrammed DC cells were able to overcome a critical limitation in [[Telomerase RNA component|TERC]] (Telomerase RNA component) levels and restored function (telomere maintenance and self-renewal).  Therapeutically, methods aimed at increasing TERC expression could prove beneficial in DC patients. <ref name="pmid20164838">{{cite journal | author = Agarwal ''et al'' | title = : Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients | journal = Nature | volume = 464 | issue = | pages = 292-296 | year = 2010 | month = | pmid = 20164838 | doi = 10.1038/nature08792 }}</ref>
[[Dyskeratosis congenita medical therapy|Medical Therapy]] | [[Dyskeratosis congenita surgery|Surgery]] | [[Dyskeratosis congenita primary prevention|Primary Prevention]] | [[Dyskeratosis congenita secondary prevention|Secondary Prevention]] | [[Dyskeratosis congenita cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Dyskeratosis congenita future or investigational therapies|Future or Invesetigational Therapies]]


== References ==
==Case Studies==
{{reflist|2}}
[[Dyskeratosis congenita case study one|Case #1]]


==External links==
==External Links==
*[http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dkc GeneReviews/NCBI/NIH/UW entry on Dyskeratosis Congenita]
* [http://www.marrowfailure.cancer.gov/index.html Dyskeratosis Congenita research study of Inherited Bone Marrow Failure Syndromes (IBMFS) ]
* [http://www.marrowfailure.cancer.gov/index.html Dyskeratosis Congenita research study of Inherited Bone Marrow Failure Syndromes (IBMFS) ]



Latest revision as of 17:41, 15 February 2015

Dyskeratosis congenita Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Dyskeratosis Congenita from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

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

Case #1

Dyskeratosis congenita On the Web

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For patient information, click here.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Cole-Rauschkolb-Toomey syndrome; DKCX; X-linked dyskeratosis congenita; Zinsser-Cole-Engman syndrome; Zinsser-Engman-Cole syndrome

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Dyskeratosis Congenita from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Invesetigational Therapies

Case Studies

Case #1

External Links

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