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| 引用本文： | �����������. �������ἤøȱ��֢[J]. 中国实用儿科杂志, 2018, 33(1): 18-22. DOI: 10.19538/j.ek2018010606 |
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| 作者姓名： | ����������� |
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| 作者单位： | ?????ж????????????? ?? ???? 518038 |
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| 摘 要： | ![]()
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| 关 键 词： | ????????????? ??IgD????? ??????????? MVK???? |
Mevalonate kinase deficiency |
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| YANG Jun��WENG Ruo-hang. Mevalonate kinase deficiency[J]. Chinese Journal of Practical Pediatrics, 2018, 33(1): 18-22. DOI: 10.19538/j.ek2018010606 |
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| Authors: | YANG Jun��WENG Ruo-hang |
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| Affiliation: | Department of Rheumatology and Immunology??Shenzhen Children’s Hospital??Shenzhen 518038??China |
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| Abstract: | ![]()
??Mevalonate kinase deficiency??MKD?? is a rare autosomal recessive autoinflammatory disease. There are two phenotypes of MKD based on the degree of the mevalonate kinase??MVK?? deficiency and clinical symptoms??including hyperimmunoglobulinemia D with periodic fever syndrome??HIDS??and mevalonic aciduria??MA??. This article will systematically review the pathogenesis??manifestations??diagnosis??treatment??and prognosis of this rare disease. |
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| Keywords: | mevalonate kinase deficiency hyperimmunoglobulinemia D with periodic fever syndrome mevalonic aciduria MVK gene |
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