Rigoli Luciana, Bramanti Placido, Di Bella Chiara, De Luca Filippo
Department of Pediatrics, University Hospital, Messina, Italy.
IRCCS Centro Neurolesi "Bonino-Pulejo", Messina, Italy.
Pediatr Res. 2018 Nov;84(5):787. doi: 10.1038/s41390-018-0146-1.
The original version of this Article erroneously cropped part of the abstract. The abstract has now been corrected to read 'Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin, which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER calcium homeostasis. Different types of WFS1 mutations have been identified, and some of these have been associated with a dominant, severe type of WS. Mutations of CISD2 gene cause autosomal recessive Wolfram syndrome 2 (WS2) characterized by the absence of diabetes insipidus and psychiatric disorders, and by bleeding upper intestinal ulcer and defective platelet aggregation. Other WFS1-related disorders such as DFNA6/14/38 nonsyndromic low-frequency sensorineural hearing loss and Wolfram syndrome-like disease with autosomal dominant transmission have been described. WS1 is a devastating disease for the patients and their families. Thus, early diagnosis is imperative to enable proper prognostication, prevent complications, and reduce the transmission to further progeny. Although there is currently no effective therapy, potential new drugs have been introduced, attempting to improve the progression of this fatal disease." in both the PDF and HTML versions of the Article.
本文的原始版本错误地裁剪了摘要的一部分。现在摘要已修正为“沃尔弗勒姆综合征1型（WS1）是一种罕见的常染色体隐性神经退行性疾病，其特征为尿崩症、糖尿病、视神经萎缩、耳聋及其他异常。WS1通常导致患者在50岁之前死亡。WS1的发病机制归因于位于4号染色体短臂上的人类WFS1基因突变，该基因编码一种名为沃尔弗拉姆蛋白的跨膜蛋白，其在膜运输、分泌、加工和/或内质网钙稳态调节中具有生理功能。已鉴定出不同类型的WFS1突变，其中一些与显性、严重型WS相关。CISD2基因突变导致常染色体隐性沃尔弗勒姆综合征2型（WS₂），其特征为无尿崩症和精神障碍，伴有上消化道溃疡出血和血小板聚集缺陷。还描述了其他与WFS1相关的疾病，如DFNA6/14/38非综合征性低频感音神经性听力损失以及具有常染色体显性遗传的类沃尔弗勒姆综合征。WS1对患者及其家庭来说是一种毁灭性疾病。因此，早期诊断对于进行正确的预后评估、预防并发症以及减少疾病向后代的传播至关重要。尽管目前尚无有效治疗方法，但已引入了一些潜在的新药，试图改善这种致命疾病的进展情况。”，文章的PDF版和HTML版均已修正。
