Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset
نویسندگان
چکیده
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Genetic analysis has demonstrated mutations of the WOLFRAMIN gene (WFS1) in patients with this syndrome (1), which may be complicated by other conditions, among them urological disorders (UDs). According to one study, UDs were found to occur in 19.39% (76/392) of WS patients with an average age of 20 yr (2), with only two patients presenting UDs before the age of 5 yr, both during infancy. We report here a neonatal case of WS presenting UDs.
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عنوان ژورنال:
دوره 25 شماره
صفحات -
تاریخ انتشار 2016