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首页> 外文期刊>Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis >A homozygote case of familial amyloid polyneuropathy amyloidgenic transthyretin Val30Met in a non-endemic area.
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A homozygote case of familial amyloid polyneuropathy amyloidgenic transthyretin Val30Met in a non-endemic area.

机译：在非流行地区发生的家族性淀粉样多发性神经病淀粉样转甲状腺素蛋白Val30Met的纯合子病例。

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摘要

Homozygotic cases of familial amyloid polyneuropathy (FAP) are expected to show late onset and mild clinical manifestations, although a homozygote case of FAP showing extremely early onset and severe manifestations was reported recently. Clinical aspects of homozygotic cases of FAP remain controversial. We report a clinical feature of a homozygotic case of FAP in a non-endemic area. The case presented late onset, slow progression, an initial symptom of visual loss, small fiber neuropathy, and autonomic dysfunction. Serum total transthyretin (TTR) levels were relatively higher than those of heterozygotic cases of FAP. Homozygotic combination of stable tetramer of ATTR may have contributed to late onset and slow progression in this case.
机译：家族性淀粉样多发性神经病（FAP）的纯合子病例预计将显示晚期发作和轻度的临床表现，尽管最近报道了FAP的纯合子病例显示了极其早期的发作和严重的表现。 FAP纯合病例的临床方面仍存在争议。我们报告在非流行地区的FAP纯合病例的临床特征。该病例起病晚，进展缓慢，最初的视力减退症状，小纤维神经病变和自主神经功能障碍。血清总甲状腺素转运蛋白（TTR）水平相对高于杂合子FAP患者。在这种情况下，ATTR稳定四聚体的纯合体组合可能导致迟发和进展缓慢。

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