Novel clinical manifestations and treatment of hereditary apoA-I amyloidosis: when a good protein turns bad.
Novel clinical manifestations and treatment of hereditary apoA-I amyloidosis: when a good protein turns bad.
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DOI：
10.1016/j.kint.2020.03.030
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发表时间：
2020-07
影响因子：
19.6
通讯作者：
Gursky O
中科院分区：
文献类型：
--
作者：
Gursky O
淀粉样病变是由多种蛋白质沉积引起的危及生命的疾病，包括血浆高密度脂蛋白的主要蛋白质apoa - 1。淀粉样变性的及时诊断对其治疗至关重要。Colombat等人报道了遗传性apoa - 1淀粉样变性的新方面，包括其意想不到的临床表现，遗传起源，以及挽救生命和视力的肝肾移植治疗。本研究提高了AApoAI的诊断水平，优化了其治疗方法，扩大了我们对这种多管齐下疾病的分子基础的认识。
Amyloidoses are life-threatening diseases caused by the deposition of various proteins including apoA-I, the major protein of plasma HDL. Timely diagnostics of amyloidoses is crucial for their treatment. Colombat et al. report novel aspects of the hereditary apoA-I amyloidosis, including its unexpected clinical presentation, genetic origins, as well as a life- and vision-saving hepatorenal transplant as treatment. This study improves the diagnostics of AApoAI, optimizes its treatment, and expands our understanding of the molecular basis of this multipronged disease.