Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

Simple item page
dc.contributor.authorToppings, N. B.
dc.contributor.authorMcMillan, J. M.
dc.contributor.authorAu, P. Y. B.
dc.contributor.authorSuchowersky, O.
dc.contributor.authorDonovan, L. E.
dc.date.accessioned2018-09-27T11:14:55Z
dc.date.available2018-09-27T11:14:55Z
dc.date.issued2018-04-18
dc.date.updated2018-09-27T11:14:55Z
dc.description.abstractBackground. Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and optic atrophy. A constellation of other features contributes to the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). This review seeks to raise awareness of this rare form of diabetes so that individuals with WS are identified and provided with appropriate care. Case. We describe a woman without risk factors for gestational or type 2 diabetes who presented with gestational diabetes (GDM) at the age of 39 years during her first and only pregnancy. Although she had optic atrophy since the age of 10 years, WS was not considered as her diagnosis until she presented with GDM. Biallelic mutations in WFS1 were identified, supporting a diagnosis of classical WS. Conclusions. The distinct natural history, complications, and differences in management reinforce the importance of distinguishing WS from other forms of diabetes. Recent advances in the genetics and pathophysiology of WS have led to promising new therapeutic considerations that may preserve β-cell function and slow progressive neurological decline. Insight into the pathophysiology of WS may also inform strategies for β-cell preservation for individuals with type 1 and 2 diabetes.
dc.description.versionPeer Reviewed
dc.identifier.citationN. B. Toppings, J. M. McMillan, P. Y. B. Au, O. Suchowersky, and L. E. Donovan, “Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies,” Case Reports in Endocrinology, vol. 2018, Article ID 9412676, 8 pages, 2018. doi:10.1155/2018/9412676
dc.identifier.doihttp://dx.doi.org/10.11575/PRISM/33006
dc.identifier.urihttp://dx.doi.org/10.1155/2018/9412676
dc.identifier.urihttp://hdl.handle.net/1880/108070
dc.language.rfc3066en
dc.rights.holderCopyright © 2018 N. B. Toppings et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.titleWolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies
dc.typeJournal Article
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
CRIE.2018.9412676.pdf
Size:
766.15 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
0 B
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Open Access Publications