PDF(Pubmed)
Abstract：
Hereditary transthyretin amyloidosis (hATTR) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensory-motor nerves, heart, autonomic function, and other organs. There are over 130 mutations known in the TTR gene. The His90Asn mutation has been previously reported in several reports, but its pathogenetic role is still debated. We report two sporadic cases of adult women with a heterozygous His90Asn mutation in TTR gene and neurological involvement extensively investigated. A typical Congo red-positive pathologic deposition of amyloid fibrils in the salivary glands was documented in one subject. Patients were successfully treated with patisiran with a good clinical outcome. These data support a pathogenetic role of His90Asn mutation in hATTR, and suggest early treatment in symptomatic carriers of His90Asn mutation.
摘要：
遗传性转甲状腺素蛋白淀粉样变性（hATTR）是一种多系统，罕见,继承,进行性和成人发病的疾病，影响感觉神经，心,自主神经功能,和其他器官。在TTR基因中已知有超过130个突变。His90Asn突变以前已经在一些报道中报道过，但其致病作用仍有争议。我们报告了两例散发性成年女性，其TTR基因中存在杂合子His90Asn突变，并广泛研究了神经系统受累。在一名受试者中记录了唾液腺中淀粉样原纤维的典型刚果红阳性病理沉积。患者成功接受patisiran治疗，临床效果良好。这些数据支持His90Asn突变在hATTR中的致病作用，并建议对有症状的His90Asn突变携带者进行早期治疗。
