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JPD:GBA帕金森病患者,体位性低血压明显

2022-05-19 Freeman MedSci原创

GBA-PD患者从仰卧位转变为直立位时收缩压下降得更明显

葡萄糖苷酶(GBA)基因的变异是帕金森病(PD)发病最常见的遗传风险因素。在一项包括1,360名参与者的大型国际综合基因筛查研究中,8.5%的帕金森病患者被发现携带杂合的GBA变体,其中最常见的是c.1093G>A(p.Glu365Lys,也称为E326K)和c.1223C>T(p.Thr408Met,也称为T369M)。在最近的一项荟萃分析中发现,这两个变异体在非阿什肯纳齐犹太人群中显著增加PD的风险。

图1:论文封面图

直立性低血压(OH)被定义为在站立3分钟内收缩压持续下降至少20毫米汞柱或舒张压下降10毫米汞柱。在PD中,OH的发生率为30-40%,取决于病程和疾病的严重程度。与GBA相关的PD(GBA-PD)患者报告自律神经症状,如OH,比特发性PD(IPD)患者更频繁,程度更严重。

与这些报告相反,一项针对1435名PD患者的大型国际研究和最近的荟萃分析没有发现GBA-PD和IPD患者之间有不同的OH频率;然而,仍然不能确定如何评估OH。

OH与认知能力下降以及姿势不稳和步态困难表型(PIGD)有关。这些临床特征在GBA-PD中也比IPD中更常见。PD中的OH主要是由于心血管症状神经支配导致的肾上腺素缺乏的结果。

以前的一份报告发现,与IPD相比,GBA-PD的心肌(123)I-metaiodo-benzylguanidine摄取量有更大的减少,这表明GBA-PD的交感神经失调更为明显。

为了解决GBA-PD与IPD相比在OH发生率方面的矛盾,德国University of Lubeck的Tatiana Usnich等人,在以前描述的和同时扩大的PD队列中进行了OH分析。他们旨在评估GBA-PD与IPD相比,从仰卧位转为直立位时的血压变化,并捕捉在改变体位时发生的任何相关症状。

与特发性帕金森病患者(IPD)相比,携带葡萄糖脑苷脂酶(GBA)基因变体的帕金森病患者(GBA-PD)更频繁地出现正压症状。

他们对33名GBA-PD和313名IPD患者进行了前瞻性分析。

与IPD患者相比,GBA-PD患者从仰卧位转变为直立位时收缩压下降得更明显

图2:论文结果图

舒张压和心率在组间没有差异。

这项研究为GBA-PD中自律神经系统的明显参与提供了进一步证据。


原文出处:
on behalf of the EPIPARK Study Group, Usnich T, Hanssen H, et al. Pronounced Orthostatic Hypotension in GBA-Related Parkinson’s Disease. JPD. Published online April 28, 2022:1-6. doi:10.3233/JPD-223197

 

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