Regional Center of Pediatric Diabetes, Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.
Int J Environ Res Public Health. 2022 Jan 12;19(2):835. doi: 10.3390/ijerph19020835.
Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary tract anomalies, endocrine dysfunctions and many other systemic manifestations. Since Wolfram and Wagener first described WS in 1938, new phenotypic/genotypic variants of the syndrome have been observed and the clinical picture has been significantly enriched. To date, two main subtypes of WS that associated with two different mutations are known: WS type 1 (WS1), caused by the mutation of the wolframine gene (WS1; 606201), and WS type 2 (WS2), caused by the mutation of the CISD2 gene (WS2; 604928).
A systematic review of the literature was describe the phenotypic characteristics of WS2 in order to highlight the key elements that differentiate it from the classic form.
WS2 is the rarest and most recently identified subtype of WS; its clinical picture is partially overlapping with that of WS1, from which it traditionally differs by the absence of diabetes insipidus and the presence of greater bleeding tendency and peptic ulcers.
Wolfram 综合征（WS）是一种罕见的常染色体隐性遗传病，其特征是存在糖尿病、视神经萎缩和听力损失，所有这些都是诊断的关键要素。WS 还常伴有尿崩症、神经紊乱、尿路异常、内分泌功能紊乱和许多其他全身表现。自 1938 年 Wolfram 和 Wagener 首次描述 WS 以来，人们已经观察到该综合征的新表型/基因型变异，并且临床表现也得到了显著丰富。迄今为止，已知与两种不同突变相关的两种主要 WS 亚型：由 wolframine 基因（WS1；606201）突变引起的 WS1 型（WS1）和由 CISD2 基因突变引起的 WS2 型（WS2；604928）。
对文献进行系统回顾，描述 WS2 的表型特征，以突出将其与经典形式区分开来的关键要素。
WS2 是 WS 中最罕见和最近发现的亚型；其临床表现部分与 WS1 重叠，但传统上与 WS1 不同，WS2 不伴有尿崩症，且更易发生出血倾向和胃溃疡。
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