Wolfram (DIDMOAD) syndrome.

Barrett, Timothy; Bundey, Sarah

doi:10.1136/jmg.34.10.838

Cited by 232 publications

(217 citation statements)

References 17 publications

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“…[137][138][139][140][141][142][143][144] Most cases have been classified as sporadic or recessively inherited. The hallmark of all these cases is the association of juvenile diabetes mellitus and progressive visual loss with optic atrophy, almost always associated with diabetes insipidus, neurosensory hearing loss, or both (hence, the eponym DIDMOAD for diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).…”

Section: Other Monosymptomatic Hereditary Optic Neuropathiesmentioning

confidence: 99%

Hereditary optic neuropathies

Newman

Biousse

2004

Eye

151

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Aims To provide a clinical update on the hereditary optic neuropathies. Methods Review of the literature. Results The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based on familial expression or genetic analysis. In some hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. In others, various neurologic and systemic abnormalities are regularly observed. Conclusion The most common hereditary optic neuropathies are autosomal dominant optic atrophy (Kjer's disease) and maternally inherited Leber's hereditary optic neuropathy. We review the clinical phenotypes of these and other inherited disorders with optic nerve involvement.

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Section: Other Monosymptomatic Hereditary Optic Neuropathiesmentioning

confidence: 99%

Hereditary optic neuropathies

Newman

Biousse

2004

Eye

151

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“…Wolfram syndrome is a rare recessively inherited genetic disorder, characterised by juvenile-onset diabetes mellitus and progressive optic atrophy [8]. Several neuro-psychiatric illnesses may also be present [9].…”

Section: Introductionmentioning

confidence: 99%

Increased insulin demand promotes while pioglitazone prevents pancreatic beta cell apoptosis in Wfs1 knockout mice

et al. 2009

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Aims/hypothesis The WFS1 gene encodes an endoplasmic reticulum (ER) membrane-embedded protein called Wolfram syndrome 1 protein, homozygous mutations of which cause selective beta cell loss in humans. The function(s) of this protein and the mechanism by which the mutations of this gene cause beta cell death are still not fully understood. We hypothesised that increased insulin demand as a result of obesity/insulin resistance causes ER stress in pancreatic beta cells, thereby promoting beta cell death. Methods We studied the effect of breeding Wfs1 −/− mice on a C57BL/6J background with mild obesity and insulin resistance, by introducing the agouti lethal yellow mutation (A y /a). We also treated the mice with pioglitazone.

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“…However, nearly all patients will have DM and this is typically the presenting feature with a peak incidence of onset at 5 years of age [13]. The average age of onset of diabetes in Wolfram syndrome has been reported to be younger than the average age of onset in Type 1 diabetes (T1DM) [15]. There are multiple differences between the presentation and course of autoimmune Type 1 diabetes and diabetes of Wolfram syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…The other ubiquitous finding in Wolfram syndrome is optic atrophy, which can progress to blindness, and typically presents at an age of 10 years. This finding is required to make the diagnosis [15]. Additional features include diabetes insipidus with peak onset at 14 years of age and present in 73% of patients, hearing impairment progressing to deafness (onset at 15 years, prevalence of 62%), renal and GU tract abnormalities (onset at 20 years, prevalence of 58%; a large, atonic bladder is a characteristic finding), and neurologic abnormalities, most commonly progressive ataxia (peak onset at 30 years of age with prevalence of 62-70%) [15].…”

Section: Discussionmentioning

confidence: 99%

“…One study showed a prevalence of severe hypoglycemia of approximately 37% in patients with Wolfram syndrome compared to only 8% in a cohort with type 1 autoimmune diabetes [13]. While few studies comment on this potentially fatal complication of Wolfram syndrome, there is a reported case of death from hypoglycemic coma in a Wolfram patient [15].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Wolfram syndrome: Are we aware of the severe hypoglycemic unawareness?

Buryk¹,

Bangalore-Krishna²,

Rivera-Vega³

et al. 2013

J Diab Res Clin Met

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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.

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Wolfram (DIDMOAD) syndrome.

Cited by 232 publications

References 17 publications

Hereditary optic neuropathies

Hereditary optic neuropathies

Increased insulin demand promotes while pioglitazone prevents pancreatic beta cell apoptosis in Wfs1 knockout mice

Wolfram syndrome: Are we aware of the severe hypoglycemic unawareness?

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