Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome
Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome
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最初两名小崎过度生长综合征患者的进行性脑动脉瘤和冠状动脉瘤
DOI：
10.1002/ajmg.a.62027
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发表时间：
2020
影响因子：
2
通讯作者：
Kosaki Kenjiro
中科院分区：
文献类型：
--
作者：
Takenouchi Toshiki;Kodo Kazuki;Yamazaki Fumito;Nakatomi Hirofumi;Kosaki Kenjiro
伴随PDGFRB（血小板衍生生长因子受体β）中的新生杂合激活突变（即p.Pro584Arg和p.Trp566Arg）的Kosaki过度生长定义了Kosaki过度生长综合征（OMIM #616592）。新出现的证据表明PDGFRB在脑动脉瘤的发生中起作用。目前迫切需要对Kosaki过度生长综合征血管表型的范围和进展进行描述。在此，我们对两名PDGFRB新生杂合突变（即p.Pro584Arg）的原始患者的系列神经血管成像研究进行了后续分析。分析显示，基底动脉、椎动脉和冠状动脉的进行性扩张始于青少年时期和20岁出头。基底椎动脉瘤的影像学表现显示动脉壁扩张迹象，与血管型Ehlers-Danlos综合征和Loeys-Dietz综合征的已知血管病理学一致。脑血管的长扩张可导致致命的并发症，即使神经外科干预。为了防止动脉扩张的进展，除了全身血压的最佳控制之外，可能还需要使用酪氨酸激酶抑制剂的预防性和治疗性医疗措施。Kosaki过度生长综合征是一种临床上可识别的综合征，早在青少年时期就可在基底动脉/椎动脉和冠状动脉中表现出进行性扩张和迂曲的血管变化。我们建议仔细咨询未来血管并发症的风险，最佳血压控制，并在随访检查期间定期进行全身血管筛查。
Skeletal overgrowth accompanied by de novo heterozygous activating mutations inPDGFRB(platelet‐derived growth factor receptor beta), that is,p.Pro584Arg and p.Trp566Arg, defines Kosaki overgrowth syndrome (OMIM #616592). Emerging evidence suggests a role of PDGFRB in the genesis of cerebral aneurysms. The delineation of the range and progression of the vascular phenotype of Kosaki overgrowth syndrome is urgently needed. Herein, we conducted subsequent analyses of serial neurovascular imaging studies of two original patients with a de novo heterozygous mutation inPDGFRB, that is, p.Pro584Arg. The analysis showed the progressive dilation of basilar and vertebral arteries and coronary arteries commencing during the teenage years and early 20s. The radiographic appearance of the basilar vertebral aneurysms showed signs of arterial wall dilation, compatible with the known vascular pathology of vascular‐type Ehlers‐Danlos syndrome and Loeys‐Dietz syndrome. The dolichoectasia in cerebrovascular arteries can lead to fatal complications, even with neurosurgical interventions. To prevent the progression of artery dilation, preventative and therapeutic medical measures using tyrosine kinase inhibitors may be necessary in addition to optimal control of the systemic blood pressure. Kosaki overgrowth syndrome is a clinically recognizable syndrome that can exhibit progressive dilatory and tortuous vascular changes in basilar/vertebral and coronary arteries as early as in the teenage years. We recommend careful counseling regarding the risk of future vascular complications, optimal blood pressure control, and regular systemic vascular screening during follow‐up examinations.
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影响因子：
11.8
作者：
Olson, Lorin E.;Soriano, Philippe
通讯作者：
Soriano, Philippe
DOI：
10.1016/j.jvs.2006.10.011
发表时间：
2006-12
期刊：
The New England journal of medicine
影响因子：
--
作者：
B. Loeys;U. Schwarze;Tammy M. Holm;B. Callewaert;G. Thomas;H. Pannu;J. De Backer;Gretchen L. Oswald;S. Symoens;S. Manouvrier;A. Roberts;F. Faravelli;M. Greco;R. Pyeritz;D. Milewicz;P. Coucke;D. Cameron;A. Braverman;P. Byers;A. De Paepe;H. Dietz
通讯作者：
B. Loeys;U. Schwarze;Tammy M. Holm;B. Callewaert;G. Thomas;H. Pannu;J. De Backer;Gretchen L. Oswald;S. Symoens;S. Manouvrier;A. Roberts;F. Faravelli;M. Greco;R. Pyeritz;D. Milewicz;P. Coucke;D. Cameron;A. Braverman;P. Byers;A. De Paepe;H. Dietz
颅内梭形和长扩张动脉瘤的临床病理学研究
影响因子：
8.3
作者：
HirofumiNakatomi;HiromuSegawa;AtsushiKurata;YoshiakiShiokawa;KazuyaNagata;HiroyasuKamiyama;KeisukeUeki;TakaakiKirino
通讯作者：
TakaakiKirino
肢端骨溶解、瘢痕疙瘩样病变、独特的面部特征和过度生长：两名新发现的早衰综合征 penttinen 型患者
影响因子：
2
作者：
Flore Zufferey;S. Hadj;Annachiara De Sandre;J. Dufier;B. Leheup;Cyril Schweitze;C. Bodemer;V. Cormier;M. le Merrer
通讯作者：
M. le Merrer
早衰综合症，Penttinen 型：中国 PDGFRB 突变病例报告。
影响因子：
3.6
作者：
Zhiyong Zhang;Shuguang Zheng;Song Zheng;Yanyan Wang;Xue;Xing;Hong
通讯作者：
Hong