Thrombocytosis in an infant with a TRPV4 mutation: a case report

Thom Christopher S.; Brandsma Erik; Lambert Michele P.

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Thrombocytosis in an infant with a TRPV4 mutation: a case report

机译：婴儿血小板减少症，具有TRPV4突变：案例报告

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Mutations in the calcium channel gene Transient Receptor Potential cation channel subfamily V member 4 (TRPV4) cause autosomal dominant skeletal dysplasia, with phenotypes ranging from mild to perinatal lethality. A recent report detailed enhanced proplatelet formation and increased murine platelet count in the context of TRPV4 activation. No prior reports have described platelet count abnormalities in human TRPV4 disease. Here, we report a case of prolonged thrombocytosis in the context of TRPV4-associated metatropic dysplasia that was lethal in the infantile period.

机译：钙通道基因瞬时受体电位阳离子通道亚家族V成员4（TRPV4）的突变导致常染色体显性骨骼发育不良，表型从轻度到围产期致死。最近的一份报告详细描述了TRPV4激活后，血小板形成增强和小鼠血小板计数增加的情况。之前没有任何报告描述人类TRPV4疾病中的血小板计数异常。在这里，我们报告了一例在婴儿期致命的TRPV4相关后向性发育不良背景下发生的长期血小板增多症。

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《Platelets》 |2021年第3期|共3页
作者
Thom Christopher S.; Brandsma Erik; Lambert Michele P.;
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作者单位

Childrens Hosp Philadelphia Div Neonatol 3401 Civ Ctr Blvd 2NW46 Philadelphia PA 19146 USA;

Childrens Hosp Philadelphia Div Neonatol 3401 Civ Ctr Blvd 2NW46 Philadelphia PA 19146 USA;

Childrens Hosp Philadelphia Div Hematol Philadelphia PA 19146 USA;

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原文格式 PDF
正文语种 eng
中图分类基础医学;
关键词
Calcium channel; skeletal dysplasia; thrombocytosis; TRPV4;

机译：钙通道;骨骼发育不良;血小板症;TRPV4;

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2. Thrombocytosis in neonates and young infants: a report of 25 patients with platelet counts of > or = 1000000 microl(-1). [J] . Wiedmeier SE, Henry E, Burnett J, Journal of perinatology: Official journal of the California Perinatal Association . 2010,第3期

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3. An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report [J] . Hao Lin, Sen Sandeep, Sugumar Dhivya Oncology letters . 2015,第2期

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5. Fabrication of Prosthetic Feeding Plate as a Treatment Plan for Infant with Complete Unilateral Cleft Lip and Palate (Case Report) [C] . Liana Rahmayani International Dental Conference of Sumatera Utara . 2018

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6. Elucidating the role of Transient Receptor Potential Channel Vanilloid 4 (TRPV4) mutation on channel activity and chondrocyte function in metatropic dysplasia. [D] . Hurd, Lauren M. 2015

机译：阐明了短暂受体潜在通道香草酸4（TRPV4）突变在嗜异型发育异常中对通道活性和软骨细胞功能的作用。
7. An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report [O] . LIN HAO, SANDEEP SEN, DHIVYA SUGUMAR -1

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8. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. [O] . Dai, J, Kim, OH, Cho, TJ, 2011

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Thrombocytosis in an infant with a TRPV4 mutation: a case report

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