williams–beuren syndrome

威廉姆斯 - 贝伦综合征
  • 文章类型: Case Reports
    威廉姆斯综合征最早由威廉姆斯和贝伦在1961-1962年报道。它是由包括弹性蛋白基因的7号染色体的零星微缺失引起的遗传性疾病。胃肠道病理学的发展,比如憩室病,与这个特定基因的缺失有关。近三分之一的威廉姆斯综合征患者发展为憩室病。首次发作的憩室炎出现在8%的患者中,诊断为威廉姆斯综合症,在40岁之前。根据文献,在WS患者的复杂性憩室炎(HincheyIII)的情况下,治疗主要是乙状结肠造口术(Hartmann手术)或吻合术。我们介绍了一个31岁男性的有趣案例,Williams综合征和HincheyIII憩室炎,他们接受了腹腔镜灌洗和穿孔的初次闭合。据我们所知,这是文献中首例以这种方式治疗Williams综合征和复杂性憩室炎(HincheyIII)患者的病例,迄今为止的结果令人鼓舞.
    Williams syndrome was first reported by Williams and Beuren in 1961-1962. It is a genetic disorder that is caused by a sporadic microdeletion of chromosome 7, which includes the elastin gene. The development of gastrointestinal pathology, such as diverticular disease, is associated with the deletion of this specific gene. Almost one-third of patients with Williams syndrome develop diverticular disease. The first episode of diverticulitis appears in 8% of patients, diagnosed with Williams syndrome, before the age of 40. According to the literature, in the case of complicated diverticulitis (Hinchey III) in patients with WS, the treatment is mainly surgical resection of sigmoid and colostomy (Hartmann procedure) or anastomosis. We present an interesting case with a 31-year-old male, with Williams syndrome and Hinchey III diverticulitis, who underwent laparoscopic lavage and primary closure of the perforation. To our knowledge, this is the first case in literature that a patient with Williams syndrome and complicated diverticulitis (Hinchey III) was treated this way and the results until now are encouraging.
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  • 文章类型: Case Reports
    背景:随着糖尿病研究的不断深入,这种疾病的更复杂的分类已经出现,揭示了特殊类型糖尿病的存在,其中许多患者容易误诊和诊断不足,导致治疗延误和医疗费用增加。这项研究的目的是确定继发性糖尿病的四个原因。
    方法:继发性糖尿病可由多种因素引起,其中一些经常被忽视。这些因素包括遗传缺陷,自身免疫性疾病,和肿瘤诱发的糖尿病。本文介绍了由Williams-Beuren综合征引起的四种类型的继发性糖尿病,Prader-Willi综合征,垂体腺瘤,与IgG4相关的疾病。这些病例由于其发病率低、稀有性而显著偏离典型的疾病进展,往往导致他们在临床实践中的忽视。与普通糖尿病患者相比,这里描述的四个人表现出鲜明的特征。标准的低血糖治疗未能有效控制疾病。随后,一系列检查和随访病史证实了糖尿病的诊断和根本原因.解决主要条件后,比如切除垂体腺瘤,提供糖皮质激素补充,实施对症治疗,所有患者的血糖水平都大幅下降,随后保持在稳定范围内。此外,其他伴随症状改善。
    结论:在糖尿病的诊断中通常不考虑引起继发性糖尿病的罕见疾病。因此,进行基因测试至关重要,抗体检测和其他必要的适当诊断措施,以通过积极有效地管理潜在疾病来促进早期诊断和干预,最终改善患者预后。
    BACKGROUND: As research on diabetes continues to advance, more complex classifications of this disease have emerged, revealing the existence of special types of diabetes, and many of these patients are prone to misdiagnosis and underdiagnosis, leading to treatment delays and increased health care costs. The purpose of this study was to identify four causes of secondary diabetes.
    METHODS: Secondary diabetes can be caused by various factors, some of which are often overlooked. These factors include genetic defects, autoimmune disorders, and diabetes induced by tumours. This paper describes four types of secondary diabetes caused by Williams-Beuren syndrome, Prader-Willi syndrome, pituitary adenoma, and IgG4-related diseases. These cases deviate significantly from the typical progression of the disease due to their low incidence and rarity, often leading to their neglect in clinical practice. In comparison to regular diabetes patients, the four individuals described here exhibited distinct characteristics. Standard hypoglycaemic treatments failed to effectively control the disease. Subsequently, a series of examinations and follow-up history confirmed the diagnosis and underlying cause of diabetes. Upon addressing the primary condition, such as excising a pituitary adenoma, providing glucocorticoid supplementation, and implementing symptomatic treatments, all patients experienced a considerable decrease in blood glucose levels, which were subsequently maintained within a stable range. Furthermore, other accompanying symptoms improved.
    CONCLUSIONS: Rare diseases causing secondary diabetes are often not considered in the diagnosis of diabetes. Therefore, it is crucial to conduct genetic tests, antibody detection and other appropriate diagnostic measures when necessary to facilitate early diagnosis and intervention through proactive and efficient management of the underlying condition, ultimately improving patient outcomes.
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  • 文章类型: Case Reports
    Williams-Beuren syndrome is a rare neurodevelopmental disorder caused by deletion of 1.5-1.8Mb genes on chromosome 7q11.23. The syndrome was first described as a triad of supra-valvular aortic stenosis, mental retardation, and distinctive facial features. Our patient was referred due to audible inspiratory stridor when he was seven days old. Following endoscopy he was diagnosed with bilateral vocal cord paralysis and was eventually intubated due to respiratory de-compensation followed by tracheotomy. On further workup he was diagnosed with hypothyroidism. Genetic workup supported the diagnosis of Williams-Beuren syndrome. We report here a case with an unusual clinical presentation.
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