Wolfram syndrome: Portuguese research

Abstract

Introduction: Wolfram syndrome (WFS) is a neurological and endocrinological degenerative disorder, also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness) syndrome. It is an autosomal recessive disorder, mostly involving the Wolfram syndrome 1 gene. The phenotypic pleiomorphism, rarity, and molecular complexity complicate the follow-up of these patients. Material and methods:We aimed to describe the clinical characteristics and the follow-up of 11 patients with this disorder. We retrospectively analysed all WFS patients diagnosed between 1990 and 2020 in the Centro Hospitalar São João, a tertiary hospital in Northern Portugal.Results: Eleven patients were included. Four patients had all 4 components of DIDMOAD. The presentation was diabetes mellitus (DM) in 9 patients, optic atrophy (OA) in another patient, and diabetes insipidus (DI) in another one. The median age of DM and OA diagnosis was 6 and 14 years, respectively. Nine patients had diabetes mellitus, and the other 2 patients had impaired glucose tolerance. All patients had OA. Four patients presented DI, all of them diagnosed in adolescence.Four patients had hearing impairment, 5 had urological abnormalities, 5 had neurological disorders, and 8 had psychiatry disorders. Eight patients had a broad spectrum of recessive mutations in WFS1. Conclusion:In conclusion, the information obtained in this study can facilitate further research in an attempt to improve prevention strategies for this devastating disease.

Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness

“…WS, sometimes referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) due to its main clinical features as an autosomal-recessive genetic disorder, was first described in 1938 by Wolfram and Wagener [ 1 , 4 ]. They described four siblings born from consanguineous parents who were diagnosed with DM and optic atrophy [ 3 , 8 ].…”

“…Wolfram syndrome (WS) is a multisystemic progressive and autosomal recessive genetic disease, whose main clinical features are diabetes insipidus, diabetes mellitus (DM), optic nerve atrophy, deafness, and urinary tract problems [1][2][3][4][5]. It affects about one in 770,000 people around the world and, therefore, is considered a rare disease [2,4].…”

“…Wolfram syndrome (WS) is a multisystemic progressive and autosomal recessive genetic disease, whose main clinical features are diabetes insipidus, diabetes mellitus (DM), optic nerve atrophy, deafness, and urinary tract problems [1][2][3][4][5]. It affects about one in 770,000 people around the world and, therefore, is considered a rare disease [2,4]. WS has a higher prevalence reported in Lebanon, where it was found that in 399 patients with juvenile-onset diabetes, and 22 had a genetically confirmed diagnosis of WS type 1 [1,3,6].…”

Fontes de energia renovável: dos subsídios aos mecanismos de mercado.

“…Arguments pro the centralized auction model point out that in terms of tariff accessibility, it is considered the lowest cost. The model is used to purchase electricity to attend distributors' consumers, and it reduces the costs of electricity that are passed on to consumers (FERREIRA;SOUZA, 2015). However, since 2017, a third reform attempt, called by the Government of Brazil (GoB) as the electricity sector modernization has been under discussion.…”