背景:基因突变或炎症,退化,或肿瘤性疾病可引发淀粉样变性。遗传性凝溶胶蛋白淀粉样变性是一种遗传性疾病,主要表现为由错误折叠的凝溶胶蛋白片段组成的淀粉样原纤维。
方法:我们介绍了三个患有AGel淀粉样变性的姐妹,说明其临床多样性。病人1,51岁,有双侧下垂,眼部不适,和脑神经受累导致的干眼综合征。病人253岁,经历进行性双侧视力障碍。病人3,50岁,表现出右眼外翻。基因分析,具有相同的突变,杂合c.640G>A(p。Asp214Asn)突变,确诊AGel淀粉样变性诊断,常见的发现包括格子角膜淀粉样变性,角膜敏感性降低,和复发性角膜糜烂。神经系统表现包括共济失调和周围神经病变,在患者1中观察到皮肤异常。患者眼部受累的严重程度和分布各不相同。
结论:常见的眼部和神经系统表现证实了AGel淀粉样变性的诊断,加强其遗传基础。神经系统症状突出了该疾病对各种器官系统的影响,而皮肤异常导致眼部不适。可变的眼部受累强调了疾病的异质性。这些患者强调遗传性gelsolin淀粉样变性的临床多样性,并提示对疾病表达的潜在环境影响。遗传确认和共聚焦显微镜发现重申了遗传基础,同时提出了评估系统性疾病严重程度的问题。需要在更大的队列中进行进一步调查。眼科医生的专业护理对于控制眼部症状至关重要,鉴于缺乏普遍的治疗方法。
UNASSIGNED: Genetic mutations or inflammatory, degenerative, or neoplastic conditions can trigger amyloidosis. Hereditary gelsolin amyloidosis is a genetic disorder primarily marked by amyloid fibrils composed of misfolded gelsolin fragments.
UNASSIGNED: We present three sisters with AGel amyloidosis, illustrating its clinical diversity. Patient 1, a 51-year-old, had bilateral ptosis, ocular discomfort, and dry eye syndrome due to cranial nerve involvement. Patient 2, a 53-year-old, experienced progressive bilateral visual impairment. Patient 3, a 50-year-old, exhibited right eye ectropion. Genetic analysis, with the identical mutation, heterozygous c.640G > A (p.Asp214Asn) mutation, confirmed AGel amyloidosis diagnoses, with common findings including lattice corneal amyloidosis, reduced corneal sensitivity, and recurrent corneal erosions. Neurological manifestations included ataxia and peripheral neuropathy, with skin abnormalities observed in patient 1. Ocular involvement severity and distribution varied among patients.
UNASSIGNED: Common ocular and neurological manifestations validated AGel amyloidosis diagnoses, reinforcing its hereditary basis. Neurological symptoms highlighted the disorder\'s impact on various organ systems, while skin abnormalities contributed to ocular discomfort. Variable ocular involvement emphasized the disorder\'s heterogeneity. These patients emphasize hereditary gelsolin amyloidosis\'s clinical diversity and suggest potential environmental influences on disease expression. Genetic confirmation and confocal microscopy findings reaffirm the genetic basis while raising questions about assessing systemic disease severity, necessitating further investigation in larger cohorts. Ophthalmologists\' specialized care is crucial for managing ocular symptoms, given the absence of a universal cure.