Natural history and clinical characteristics of 50 patients with Wolfram syndrome

Abstract

The early presence of a non-autoimmune insulin dependent DM, should alert us of an "infrequent" diabetes syndrome. Wolfram's presumptive diagnosis could be established if juvenile-onset DM occurs concomitantly with OA, and this visual impairment is not attributable to diabetic retinopathy. Despite the long period of evolution of DM and altered values of HbA1c, the prevalence of microvascular complications in the sample are low.

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

“…Patients require insulin treatment from diagnosis. Other typical clinical features, such as sensorineural deafness, central diabetes insipidus, urinary tract dysfunction, and neurological symptoms develop later in a variable order even within the same family . Many patients with WFS are initially diagnosed as having type 1 diabetes; subsequent loss of vision, which occurs approximately 4 years after diabetes diagnosis, may be misdiagnosed as diabetic retinopathy .…”

Análisis de la calidad de vida en personas con el Síndrome de Wolfram y de sus cuidadores: aspectos sociológicos y psicológicos

“…El SW se caracteriza por poseer una muy baja prevalencia estimándose que afecta a 1 de cada 55.000-770.000 personas (Karzon et al, 2018) y siendo la frecuencia de portadores de 1/354 (Barrett et al, 1995). La prevalencia en el territorio español se estima que puede ascender a 1:1.000.000 (Esteban et al, 2018) lo que obliga a trabajar con universos de investigación acotados. Esta entidad neurodegenativa progresiva suele debutar desde muy temprana edad (en torno a los 5 años).…”

Early Intervention and Lifelong Treatment with GLP1 Receptor Agonist Liraglutide in a Wolfram Syndrome Rat Model with an Emphasis on Visual Neurodegeneration, Sensorineural Hearing Loss and Diabetic Phenotype

“…Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in the Wolframin 1 (WFS1) gene. WS is characterized by juvenile-onset insulin-dependent diabetes mellitus, diabetes insipidus, deafness, optic atrophy, neurological complications and endocrine abnormalities [1][2][3][4][5][6][7][8]. Therefore, WS is established as a spectrum disorder where the severity and emergence of the features depend on the genetic background and location of the mutations which lead to the dysfunction of the WFS1 protein [4][5][6][7][8].…”

“…WS is characterized by juvenile-onset insulin-dependent diabetes mellitus, diabetes insipidus, deafness, optic atrophy, neurological complications and endocrine abnormalities [1][2][3][4][5][6][7][8]. Therefore, WS is established as a spectrum disorder where the severity and emergence of the features depend on the genetic background and location of the mutations which lead to the dysfunction of the WFS1 protein [4][5][6][7][8]. In WS patients, the diabetes can be effectively managed, leaving the loss of vision and 2 of 18 neurodegeneration as the main symptoms impairing the quality of life [8].…”