scholarly journals Microvascular Diabetes Complications in Wolfram Syndrome (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness [DIDMOAD]): An age- and duration-matched comparison with common type 1 diabetes

Diabetes Care ◽  
2007 ◽  
Vol 30 (9) ◽  
pp. 2327-2330 ◽  
Author(s):  
A. Cano ◽  
L. Molines ◽  
R. Valero ◽  
G. Simonin ◽  
V. Paquis-Flucklinger ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Diabetes Complications ◽  
Wolfram Syndrome ◽  
Common Type ◽  
Matched Comparison

scholarly journals Wolfram syndrome: a case report with severe polyuria and secondary urological abnormalities

2021 ◽  
Vol 8 (4) ◽  
pp. 759
Author(s):  
Niranjan kumbara Hunasagatta Omkarappa ◽  
Prashanth Siddaiah ◽  
Shalini Sankalapura Rangaswamy ◽  
Ramu Anjanaiah ◽  
Devika Chennakeshava ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Case Report ◽  
Diabetes Insipidus ◽  
Type 1 Diabetes Mellitus ◽  
Optic Atrophy ◽  
Sensorineural Deafness ◽  
Wolfram Syndrome ◽  
Dependent Diabetes Mellitus

Wolfram syndrome is the condition characterized by juvenile onset diabetes mellitus and optic atrophy, which is also known as DIDMOAD. Classical Wolfram syndrome is a rare autosomal recessive disorder caused by mutations in WFS1, a gene involved in endoplasmic reticulum and mitochondrial function. Patients present with type 1 diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts as early as in the third decade, and various neurological abnormalities in the early fourth decade. We describe a case report of 14-year-old male child diagnosed as wolfram syndrome with type 1 diabetes mellitus, diabetes insipidus, deafness, optic atrophy and severe urological abnormalities. Patients who present with early onset insulin-dependent diabetes mellitus and optic atrophy together should be evaluated with respect to Wolfram Syndrome. If a patient, who is a known case of diabetes mellitus, presents with persistent polyuria or neurogenic bladder despite good glycemic control, suspicion of wolfram syndrome and further evaluation regarding the same must be made. Recognizing and timely management of this condition will help to improve the quality of life in the patient.

scholarly journals The importance of multidisciplinary care of patients with Wolfram

2018 ◽  
Vol 1 (2) ◽  
pp. 01-03
Author(s):  
Rebecca A Dennison
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Severe Hypoglycemia ◽  
Multidisciplinary Care ◽  
Wolfram Syndrome ◽  
Continuous Glucose Monitor ◽  
Hypoglycemia Unawareness ◽  
History Of

Background: Wolfram syndrome is a genetic condition, which is typically inherited in autosomal recessive fashion, characterized by the combination of diabetes mellitus and optic atrophy. It is along a spectrum which encompasses DIDMOAD (Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Profound hypoglycemic unawareness can be seen in this condition but is not commonly described as an associated feature in the literature. Case report: A 16 year old female with history of presumed type 1 diabetes presented to urology clinic with urinary incontinence. She was found to have profound dilation of the bladder and was admitted for bladder decompression. During the course of admission she was found to also have diabetes insipidus and optic atrophy. She had several severe hypoglycemic episodes with profound hypoglycemia unawareness during this admission. Genetic testing for Wolfram syndrome was positive. As an outpatient she was placed on a continuous glucose monitor to help manage her hypoglycemia. Addtionally, psychiatric support to manage her associated depression was an important aspect of her therapy. As her depression improved so did her ability to comply with the necessary therapies. Conclusions: Wolfram syndrome is a rare syndrome that has been well described. However, patients with this syndrome have frequent hypoglycemia unawareness and severe hypoglycemia likely related to the neurologic deterioration that occurs at the molecular level in the pathogenesis of Wolfram syndrome. Strategies must be put in to place to help prevent and quickly treat these hypoglycemic events.

Corrigendum to “Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients” [GENE 566/1 (2015) 63–67]

Gene ◽  
2015 ◽  
Vol 568 (2) ◽  
pp. 227
Author(s):  
Maria E. Blanco-Aguirre ◽  
David Rivera-De la Parra ◽  
Hugo Tapia-Garcia ◽  
Johanna Gonzalez-Rodriguez ◽  
Daniela Welschen ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Clinical Assessment ◽  
Wolfram Syndrome ◽  
Gene Screening ◽  
Wfs1 Gene

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

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
N. B. Toppings ◽  
J. M. McMillan ◽  
P. Y. B. Au ◽  
O. Suchowersky ◽  
L. E. Donovan
Keyword(s):  
Diabetes Mellitus ◽  
Optic Atrophy ◽  
Cell Function ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Wolfram Syndrome ◽  
Biallelic Mutations ◽  
Therapeutic Considerations

Background.Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations inWFS1,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 inWFS1were 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 preserveβ-cell function and slow progressive neurological decline. Insight into the pathophysiology of WS may also inform strategies forβ-cell preservation for individuals with type 1 and 2 diabetes.

Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients

Gene ◽  
2015 ◽  
Vol 566 (1) ◽  
pp. 63-67 ◽  
Author(s):  
Maria E. Blanco-Aguirre ◽  
David Rivera-De la Parra ◽  
Hugo Tapia-Garcia ◽  
Johanna Gonzalez-Rodriguez ◽  
Daniela Welskin ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Clinical Assessment ◽  
Wolfram Syndrome ◽  
Gene Screening ◽  
Wfs1 Gene
Sign in / Sign up

Export Citation Format

Share Document