Wolfram syndrome: Phenotypic heterogeneity and novel genetic variants in the WFS1 gene
Endocrinol Diabetes Nutr (Engl Ed). 2022 Feb;69(2):153-154. doi: 10.1016/j.endien.2020.11.007. NO ABSTRACT PMID:35256060 | DOI:10.1016/j.endien.2020.11.007
Recurrent Urinary Tract Infection in Young Diabetics: Reason to Look Beyond the Pancreas!
Saudi J Kidney Dis Transpl. 2021 Jul-Aug;32(4):1176-1179. doi: 10.4103/1319-2442.338295. ABSTRACT Wolfram syndrome (WFS) is a rare autosomal recessive disorder which manifests with diabetes mellitus, diabetes insipidus (DI), optic atrophy, and deafness. Central DI is a late presentation of the disease which may rarely present with renal tract anomalies and recurrent urinary infections instead of classical […]
An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus
Int J Environ Res Public Health. 2022 Feb 21;19(4):2473. doi: 10.3390/ijerph19042473. ABSTRACT Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described […]
Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models
Sci Transl Med. 2022 Feb 9;14(631):eabh3763. doi: 10.1126/scitranslmed.abh3763. Epub 2022 Feb 9. ABSTRACT The Wolfram syndrome is a rare autosomal recessive disease affecting many organs with life-threatening consequences; currently, no treatment is available. The disease is caused by mutations in the WSF1 gene, coding for the protein wolframin, an endoplasmic reticulum (ER) transmembrane protein involved […]
Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study
Sci Rep. 2022 Feb 8;12(1):2103. doi: 10.1038/s41598-022-06150-6. ABSTRACT To evaluate differences in macular and optic disc circulation in patients affected by Wolfram Syndrome (WS) employing optical coherence tomography-angiography (OCTA) imaging. In this retrospective study, 18 eyes from 10 WS patients, 16 eyes of 8 patients affected by type I diabetes and 17 eyes from 17 […]
Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum
Int J Environ Res Public Health. 2022 Jan 12;19(2):835. doi: 10.3390/ijerph19020835. ABSTRACT BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary […]
Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump
AACE Clin Case Rep. 2023 May 6;9(4):125-127. doi: 10.1016/j.aace.2023.05.002. eCollection 2023 Jul-Aug. ABSTRACT BACKGROUND/OBJECTIVE: Wolfram syndrome (WS) is a rare genetic disorder, in which patients develop early-onset diabetes mellitus (DM), optic nerve atrophy, and neurodegeneration, which has no specific treatment available. Here, we report 2 brothers treated with an insulin pump to manage the alterations […]
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review
Brain Sci. 2023 Jul 5;13(7):1030. doi: 10.3390/brainsci13071030. ABSTRACT Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness. Wolfram syndrome, however, is phenotypically heterogenous with variable clinical manifestations and age of onset. […]
Therapy resistant urticaria as a long-term symptom of an incomplete Schnitzler syndrome
Allergy Asthma Clin Immunol. 2023 Jul 26;19(1):64. doi: 10.1186/s13223-023-00819-x. ABSTRACT BACKGROUND: Recurring therapy resistant hives, accompanied by IgM-gammopathy, fever and joint pain can indicate Schnitzler syndrome, a rare autoimmune disorder. There is currently no approved treatment, but complete remission of symptoms can be induced with IL-1 antagonists. CASE PRESENTATION: A patient with a history of […]
Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis
Healthcare (Basel). 2023 Jun 29;11(13):1888. doi: 10.3390/healthcare11131888. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative disease usually of autosomal recessive origin. There is limited research about sensorineural hearing loss, despite it being a fundamental entity. It is important to broaden the study of this disease and specify a set of tests required for an adequate […]