PDF(Pubmed)
Abstract：
UNASSIGNED: Early diagnosis of syndromic monogenic diabetes allows for proper management and can lead to improved quality of life in the long term. This report aimed to describe 2 genetically confirmed cases of Wolfram syndrome, a rare endoplasmic reticulum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration.
UNASSIGNED: A 16-year-old Caucasian male patient and a 25-year-old Caucasian female patient with a history of diabetes mellitus and optic nerve atrophy presented at our medical center. Both patients were initially diagnosed with type 1 diabetes but negative for islet autoantibodies. Their body mass indexes were under 25 at the diagnosis. Their history and presentation were highly suspicious for Wolfram syndrome.
UNASSIGNED: The genetic tests revealed a known Wolfram syndrome 1 (WFS1) pathogenic variant (homozygous) in the 16-year-old male patient and 2 known WFS1 pathogenic variants (compound heterozygous) in the 25-year-old female patient with diabetes mellitus and optic nerve atrophy, confirming the diagnosis of Wolfram syndrome. The first patient had a moderate form, and the second patient had a milder form of Wolfram syndrome.
UNASSIGNED: Providers should consider monogenic diabetes genetic testing, including WFS1 gene, for patients with early-onset diabetes who are negative for islet autoantibodies and lean. Two patients described in this article could have been diagnosed with Wolfram syndrome before they developed optic nerve atrophy. Genetic testing is a valuable tool for the early detection of Wolfram syndrome, which leads to proper management and improved quality of life in patients with this rare medical condition.
UNASSIGNED: A 16-year-old Caucasian male patient and a 25-year-old Caucasian female patient with a history of diabetes mellitus and optic nerve atrophy presented at our medical center. Both patients were initially diagnosed with type 1 diabetes but negative for islet autoantibodies. Their body mass indexes were under 25 at the diagnosis. Their history and presentation were highly suspicious for Wolfram syndrome.
UNASSIGNED: The genetic tests revealed a known Wolfram syndrome 1 (WFS1) pathogenic variant (homozygous) in the 16-year-old male patient and 2 known WFS1 pathogenic variants (compound heterozygous) in the 25-year-old female patient with diabetes mellitus and optic nerve atrophy, confirming the diagnosis of Wolfram syndrome. The first patient had a moderate form, and the second patient had a milder form of Wolfram syndrome.
UNASSIGNED: Providers should consider monogenic diabetes genetic testing, including WFS1 gene, for patients with early-onset diabetes who are negative for islet autoantibodies and lean. Two patients described in this article could have been diagnosed with Wolfram syndrome before they developed optic nerve atrophy. Genetic testing is a valuable tool for the early detection of Wolfram syndrome, which leads to proper management and improved quality of life in patients with this rare medical condition.
摘要：
未经证实：综合征性单基因糖尿病的早期诊断允许适当的管理，并可导致长期生活质量的改善。本报告旨在描述2例基因证实的Wolfram综合征病例，一种罕见的以胰岛素依赖型糖尿病为特征的内质网疾病，视神经萎缩,和进行性神经变性。
UNASSIGNED：在我们的医疗中心就诊的有糖尿病和视神经萎缩病史的16岁白人男性患者和25岁白人女性患者。两名患者最初被诊断为1型糖尿病，但胰岛自身抗体阴性。诊断时他们的体重指数低于25。他们的病史和表现高度怀疑Wolfram综合征。
UNASSIGNED：基因测试显示，16岁男性患者中有已知的Wolfram综合征1（WFS1）致病变异（纯合），25岁女性糖尿病和视神经萎缩患者中有2个已知的WFS1致病变异（复合杂合），确认Wolfram综合征的诊断。第一个病人是中度的,第二名患者患有轻度的Wolfram综合征。
未经评估：提供者应考虑单基因糖尿病基因检测，包括WFS1基因,对于胰岛自身抗体阴性和瘦的早发性糖尿病患者。本文描述的两名患者在发生视神经萎缩之前可能已被诊断为Wolfram综合征。基因检测是早期发现Wolfram综合征的宝贵工具,这导致了这种罕见疾病患者的适当管理和生活质量的提高。
UNASSIGNED：在我们的医疗中心就诊的有糖尿病和视神经萎缩病史的16岁白人男性患者和25岁白人女性患者。两名患者最初被诊断为1型糖尿病，但胰岛自身抗体阴性。诊断时他们的体重指数低于25。他们的病史和表现高度怀疑Wolfram综合征。
UNASSIGNED：基因测试显示，16岁男性患者中有已知的Wolfram综合征1（WFS1）致病变异（纯合），25岁女性糖尿病和视神经萎缩患者中有2个已知的WFS1致病变异（复合杂合），确认Wolfram综合征的诊断。第一个病人是中度的,第二名患者患有轻度的Wolfram综合征。
未经评估：提供者应考虑单基因糖尿病基因检测，包括WFS1基因,对于胰岛自身抗体阴性和瘦的早发性糖尿病患者。本文描述的两名患者在发生视神经萎缩之前可能已被诊断为Wolfram综合征。基因检测是早期发现Wolfram综合征的宝贵工具,这导致了这种罕见疾病患者的适当管理和生活质量的提高。
