Editorial: Debates in clinical management in pediatric endocrinology, volume II
Front Endocrinol (Lausanne). 2023 Aug 21;14:1270794. doi: 10.3389/fendo.2023.1270794. eCollection 2023. NO ABSTRACT PMID:37670885 | PMC:PMC10476077 | DOI:10.3389/fendo.2023.1270794
Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review
JPGN Rep. 2023 Jul 17;4(3):e339. doi: 10.1097/PG9.0000000000000339. eCollection 2023 Aug. ABSTRACT BACKGROUND: There are very few reports of Wolfram syndrome-2 (WFS2) in the literature, and understanding of involvement of the gastrointestinal (GI) tract in the syndrome is limited. Objectives: This study aims to describe the clinical presentations of a large number of WFS2 patients with […]
Wolfram Syndrome: Only a Neurodegenerative Disease or Also a Maculopathy?
J Neuroophthalmol. 2023 Aug 14. doi: 10.1097/WNO.0000000000001981. Online ahead of print. NO ABSTRACT PMID:37581949 | DOI:10.1097/WNO.0000000000001981
There’s More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient
J Med Cases. 2023 Jul;14(7):265-269. doi: 10.14740/jmc4128. Epub 2023 Jul 31. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative and genetic disorder, also known by the synonym DIDMOAD, which stands for diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), optic atrophy (OA), and deafness (D). We present a case of a 25-year-old diabetic patient, using insulin […]
WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India
J Clin Endocrinol Metab. 2022 Apr 19;107(5):1328-1336. doi: 10.1210/clinem/dgac002. ABSTRACT CONTEXT: Wolfram syndrome (WFS) is a rare autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, deafness, and progressive neurodegeneration. However, due to the progressive nature of the disease and a lack of complete clinical manifestations, a confirmed diagnosis of WFS at the […]
Metabolic Treatment of Wolfram Syndrome
Int J Environ Res Public Health. 2022 Feb 27;19(5):2755. doi: 10.3390/ijerph19052755. ABSTRACT Wolfram Syndrome (WS) is a very rare genetic disorder characterized by several symptoms that occur from childhood to adulthood. Usually, the first clinical sign is non-autoimmune diabetes even if other clinical features (optic subatrophy, neurosensorial deafness, diabetes insipidus) may be present in an […]
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 […]