@article {Zampino10.1212 / WNL。0000000000207158,作者={塞雷娜Zampino Farooq H酋长和常磐线Vaishnav丹尼尔法官和Baohan锅和仙露丹尼尔和埃米莉布朗和吉吉埃比尼泽和迈克尔Polydefkis}, title ={与Val122Ile相关的表型、Leu58His和晚发性Val30Met变异遗传转体基因淀粉样变患者},elocation-id = {10.1212 / WNL。={2023}0000000000207158},年,doi = {10.1212 / WNL。出版商0000000000207158}= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={背景和目标:hATTR是一种罕见的常染色体显性系统性疾病与可变外显率和异构的临半岛投注体育官网床表现。一些有效的治疗可以减少死亡和残疾,虽然诊断仍然是具有挑战性的,尤其是在我们在疾病非。我们的目标是描述常见的神经和心脏特征我们ATTR变异V122I, L58H和晚发性V30M演示。方法:我们进行了一项回顾性病例系列的新诊断患者ATTRv 2008年1月至2020年1月的描述特征突出我们变异体神经(考试、肌电图、皮肤活检),心脏(回声)和实验室评估(proBNP可逆神经病变屏幕)。结果:患者56 treatment-na{\“\我}ve ATTRv与周围神经病变的症状/体征或心肌病和确认基因测试显示Val122Ile (N = 31),晚发性Val30Met (N = 12)和Leu58His ATTRv (N = 13)都包括在内。发病年龄和性别分布是相似的(V122I: 71.5 8.0 {\ textpm}, V30M: 64.8 2.6 {\ textpm}, L58H: 62.4 {\ textpm} 9.8年;26日,25日,31 \ %的女性)。只有10 \ % V122I患者和17 \ %的患者V30M知道ATTRv家族史,而69 \ % L58H患者。周围神经病变出现在所有三个变异诊断(90、100、100 \ %)虽然神经损伤分数不同:V122I: 22 {\ textpm} 16日V30M: 61 {\ textpm} 31和L58H: 57 {\ textpm} 25。 Most points (deficits) were attributed to loss of strength. Carpal tunnel syndrome (CTS) and a positive Romberg sign were common across all groups (V122I: 97\%, 39\%; V30M: 58\%, 58\%; L58H: 77\%, 77\%).ProBNP levels and interventricular septum thickness were highest among patients with V122I (5939{\textpm}962pg/mL, 1.70{\textpm}0.29cm) followed by V30M (796{\textpm}970pg/mL, 1.42{\textpm}0.38cm) and L58H (404{\textpm}677pg/mL, 1.23{\textpm}0.36cm). Atrial fibrillation was present among 39\% of V122I cases and only 8\% of V30M and L58H cases. Gastrointestinal symptoms were rare (6\%) among patients with V122I and common in patients with V30M (42\%) and L58H (54\%).Discussion: Important clinical differences exist between ATTRv genotypes. While V122I is perceived to be a cardiac disease, peripheral neuropathy is common and clinically relevant. Most patients with V30M and V122I were diagnosed de-novo and therefore require clinical suspicion for diagnosis.A history of CTS and a positive Romberg sign are helpful diagnostic clues.}, issn = {0028-3878}, URL = {//www.ebmtp.com/content/early/2023/03/20/WNL.0000000000207158}, eprint = {//www.ebmtp.com/content/early/2023/03/20/WNL.0000000000207158.full.pdf}, journal = {Neurology} }