Wolfram syndrome: A rare genetic disorder affecting multiple organ systems Annamneedi Sree Bhagya Lekha1,*, Sorra Abhiram1, Mugada Vinod Kumar1, Yarguntla Srinivasa Rao2 1Department of Pharmacy Practice, Vignan Institute of Pharmaceutical Technology, Duvvada, Andhra Pradesh, India 2Department of Pharmaceutics, Vignan Institute of Pharmaceutical Technology, Duvvada, Andhra Pradesh, India *Corresponding Author E-mail: bhagyasreelekha@gmail.com
Online Published on 30 January, 2024. Abstract Wolfram syndrome is a rare neurological disorder characterised by four main symptoms: diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. It is caused by alterations in the CISD2 and WFS1 genes, which encode important proteins involved in cellular processes. Wolfram syndrome type 1 (WS1) has an earlier onset of diabetes and more severe neurological and ocular involvement compared to WS2. The diagnosis of Wolfram syndrome is based on the presence of early-onset diabetes and progressive optic atrophy. Genetic analysis, such as sequencing of the WFS1 gene, is used to confirm the diagnosis. The prevalence of Wolfram syndrome varies across populations, with a carrier frequency of 1 in 354. Individuals with Wolfram syndrome may experience a range of complications, including neurological abnormalities, urinary tract problems, depression, and an increased risk of suicide. The pathophysiology of Wolfram syndrome involves endoplasmic reticulum stress and unfolded protein responses, leading to cellular dysfunction and apoptosis. A differential diagnosis includes other genetic and mitochondrial disorders with similar symptoms. Although there is no cure for Wolfram syndrome, careful clinical observation and supportive therapy can help manage the symptoms and improve the quality of life for affected individuals. Top Keywords Wolfram syndrome, Diabetes mellitus, Diabetes insipidus, Optic atrophy. Top |