Wolfram综合征(WFS)是一种罕见的常染色体隐性遗传神经退行性疾病,以糖尿病为特征,尿崩症,视神经变性,听力障碍,和其他异常。此外,一部分人经历神经学,内分泌,行为,和尿路疾病使管理更具挑战性。这里,我们介绍了一名22岁男性,他在4岁时被诊断患有1型糖尿病,并接受了基础推注胰岛素治疗.他在13岁时视力模糊和听力丧失,我们的评估显示视神经萎缩和感觉神经性听力损失。尽管血糖水平相当受控,但他仍有多饮和多尿(每天摄入/输出5-6L)。血清抗利尿激素(ADH),这证实了中央性尿崩症的诊断。他的超声图和尿流量研究显示,双侧输尿管肾积水伴有反流性尿路病。我们诊断他患有神经源性膀胱疾病伴逼尿肌括约肌协同失调。该患者患有早发性泌尿系统疾病,并累及眼睛和耳朵,患有糖尿病和尿崩症,满足WFS的标准。基因测试证实了诊断。他目前正在接受胰岛素和去氨加压素的治疗。
Wolfram syndrome (WFS) is an uncommon autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, diabetes insipidus, optic nerve degeneration, hearing impairment, and other abnormalities. Additionally, a portion of individuals experience neurological, endocrine, behavioral, and urinary tract disorders that make management more challenging. Here, we present a 22-year-old male who was diagnosed with type 1 diabetes at the age of 4 and received treatment with basal-bolus insulin therapy. He had blurring of vision and hearing loss at 13 years of age, and our evaluation revealed optic atrophy and sensorineural hearing loss. He had polydipsia and polyuria (intake/output of 5-6 L/day) despite a fairly controlled blood glucose level. Serum anti-diuretic hormone (ADH) was done, which confirmed the diagnosis of central diabetes insipidus. His sonogram and urinary flow studies revealed bilateral hydroureteronephrosis with reflux uropathy. We diagnosed him with neurogenic bladder disorder with detrusor sphincter dyssynergia. This patient had an early onset urological disorder with involvement of eyes and ears, with diabetes mellitus and diabetes insipidus, which satisfied the criteria of WFS. The genetic test confirmed the diagnosis. He is currently being managed with insulin and desmopressin.