Fabry disease featured by periodic fever and proteinuria:a case report
<正>Fabry病是一种罕见的X染色体连锁的隐性遗传性疾病,是仅次于Gaucher病第二常见的多系统溶酶体蓄积性病,其发病机制为编码α-半乳糖苷酶A的基因发生突变或缺失,导致α-半乳糖苷酶A功能缺失,造成三己糖酰基鞘氨醇的正常降解受阻,蓄积在多种细胞溶酶体中,造成肾脏、心脏、神经等损害。本病的误诊率、漏诊率较高。因此,本文通过对我院确诊的1例Fabry病,结合其症状、体征及检查结果进行分析,以加强对该病的认识,提高诊断水平。...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | zho |
| Published: |
Editorial Department of Journal of Clinical Nephrology
2020-01-01
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| Series: | Linchuang shenzangbing zazhi |
| Subjects: | |
| Online Access: | http://www.lcszb.com/thesisDetails?columnId=57906558&Fpath=home&index=0 |
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