TY - JOUR
T1 - Wolfram Syndrome
T2 - Diagnosis, Management, and Treatment
AU - Urano, Fumihiko
N1 - Funding Information:
The author thanks all of the participants in the Wolfram syndrome International Registry and Research Clinic for their time and efforts and the Washington University Wolfram Study Group Members and the study staff for their support ( http://wolframsyndrome.dom.wustl.edu/ ). The author also thanks patient organizations, including Wolfram UK, Association du Syndrome de Wolfram in France, Associacion Sindrome de Wolfram in Spain, Wolfram syndrome patient organization in Italy, Worldwide Society of Wolfram Syndrome Families, the Ellie White Foundation for Rare Genetic Disorders, and the Snow Foundation for their continued encouragement and support, the members of EURO-WABB for their advice and support, the members of Global Rare Diseases Patient Registry and Data Repository Program of NIH/NCATS, and the drug development team at NIH/NCATS. This work was supported by grants from NIH (DK067493, DK020579, and UL1 TR000448), JDRF (17-2013-512), ADA (1-12-CT-61), the Ellie White Foundation for Rare Genetic Disorders, the Team Ian, the Team Alejandro, and the Snow Foundation to F. Urano.
Publisher Copyright:
© 2016, The Author(s).
PY - 2016/1/1
Y1 - 2016/1/1
N2 - Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis of this syndrome is currently poor, and many patients die prematurely with severe neurological disabilities, raising the urgency for developing novel treatments for Wolfram syndrome. In this article, we describe natural history and etiology, provide recommendations for diagnosis and clinical management, and introduce new treatments for Wolfram syndrome.
AB - Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis of this syndrome is currently poor, and many patients die prematurely with severe neurological disabilities, raising the urgency for developing novel treatments for Wolfram syndrome. In this article, we describe natural history and etiology, provide recommendations for diagnosis and clinical management, and introduce new treatments for Wolfram syndrome.
KW - Blindness
KW - Deafness
KW - Endoplasmic reticulum stress
KW - Genetic disorder
KW - Neurodegeneration
KW - Type 1 diabetes
KW - Type 2 diabetes
KW - Wolfram syndrome
KW - β cells
UR - http://www.scopus.com/inward/record.url?scp=84953390394&partnerID=8YFLogxK
U2 - 10.1007/s11892-015-0702-6
DO - 10.1007/s11892-015-0702-6
M3 - Review article
C2 - 26742931
AN - SCOPUS:84953390394
SN - 1534-4827
VL - 16
SP - 1
EP - 8
JO - Current diabetes reports
JF - Current diabetes reports
IS - 1
M1 - 6
ER -