Vascular Ehlers-Danlos syndrome diagnosed in a patient initiating hemodialysis
Vascular Ehlers-Danlos syndrome diagnosed in a patient initiating hemodialysis
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一名开始血液透析的患者诊断出血管埃勒斯-当洛斯综合征
DOI：
10.1016/j.ekir.2019.07.020
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发表时间：
2019
影响因子：
6
通讯作者：
Masaomi Nangaku
中科院分区：
文献类型：
--
作者：
Haruki Ouchi;Hiroshi Nishi;Motonobu Nakamura;Yosuke Hirakawa;Tetsuhiro Tanaka;Norifumi Takeda;Takafumi Akai;Yuichi Ohashi;Katsuyuki Hoshina;Toshio Takayama;Masaomi Nangaku
讨论在这种情况下，在患者手术建立血管通路期间意外的BA损伤使我们能够考虑先天性血管脆弱性（包括vEDS）的可能性。vEDS应被怀疑在个人，特别是那些年龄小于40，与任何一个主要的诊断标准，包括动脉瘤/夹层/破裂，肠破裂，子宫破裂在怀孕期间，或家族史的vEDS。还有几个次要的诊断标准：薄，半透明的皮肤（特别是在胸部/腹部）和特征性的面部外观（薄朱红嘴唇，小颌，窄鼻，突出的眼睛）。1所列标准不包括温和手术操作过程中的血管损伤（如我们患者所见），我们认为这相当于动脉瘤/夹层/破裂，这是vEDS的主要标准之一。
DiscussionIn this case, unexpected BA injuries during the patient’s surgeries to establish a vascular access enabled us to consider the possibility of a congenital vascular fragility including vEDS. vEDS should be suspected in individuals, particularly those younger than 40, with any one of the major diagnostic criteria, including arterial aneurysms/dissection/rupture, intestinal rupture, uterine rupture during pregnancy, or a family history of vEDS. There are also several minor diagnostic criteria: thin, translucent skin (especially noticeable on the chest/abdomen), and a characteristic facial appearance (thin vermilion lips, micrognathia, narrow nose, prominent eyes). 1 The criteria listed do not include vascular injuries during gentle surgical manipulation (as seen in our patient), which we considered equivalent to arterial aneurysms/dissection/rupture, one of the major criteria of vEDS.