Dyskeratosis congenita

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Dyskeratosis congenita Microchapters

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

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

Recent research has used 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 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. [1]

References

  1. Agarwal; et al. (2010). ": Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients". Nature. 464: 292–296. doi:10.1038/nature08792. PMID 20164838.

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