Non-syndromic WFS1 mutations are not a rare cause of diabetes in Pakistan

Publication: onlinelibrary.wiley.com | Publication Date: 29 April 2025

Authors: Ibrar Rafique, Asif Mir, Natalija Popovic, Alix Vanpoperinghe, Muhammad Arif Nadeem Saqib, Asher Fawwad, Abdul Basit, Muhammad Naeem, Constantin Polychronakos, Angeliki Makri

Abstract

We examined 68 Pakistani patients with young onset diabetes and found a surprisingly high rate (4/68) of non-syndromic WFS1 diabetes, a recently described recessive condition. This frequency far exceeds the prevalence of the fully expressed syndrome, probing the effect of high consanguinity on the risk of non-syndromic WFS1 diabetes.
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TREATWOLFRAM international clinical trial of sodium valproate in Wolfram syndrome: interim results

First results from the TREATWOLFRAM trial, sponsored by the University of Birmingham, find sodium valproate treatment does not slow vision loss in Wolfram syndrome.

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Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities

Objectives: Wolfram syndrome is characterised by insulin-dependent diabetes (IDDM), diabetes insipidus (DI), optic atrophy, sensorineural deafness and neurocognitive disorders. The DIDMOAD acronym has been recently modified to DIDMOAUD suggesting the rising awareness of the prevalence of urinary tract dysfunction (UD). End stage renal disease is the commonest cause of mortality in Wolfram syndrome. We present a case series with main objective of long term follow up in four children having Wolfram syndrome with evaluation of their urodynamic profile.
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