遗传性血管病、肾病、动脉瘤和肌肉痉挛综合征临床、影像学、病理和基因分析

目的对1例遗传性血管病、肾病、动脉瘤和肌肉痉挛（hereditary angiopathy with nephropathy, aneurysm and cramps,HANAC）综合征患者进行临床、病理及基因的分析. 方法收集患者病史、家族史,进行影像学检查、皮肤肾脏活检.对患者及家族成员进行COL4A1基因分析. 结果50岁女性患者,临床表现为脑白质病变、肾病、肌肉痉挛.皮肤活检可见小血管基底膜普遍性增厚,胶原组织增生.肾脏穿刺活检病理显示肾小球血管基底膜增厚,肾小管间质增生.COL4A1基因检测发现第1号外显子A1A/G杂合子突变,为起始密码子的突变. 结论 COL4A1基因第1号外显子...

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Bibliographic Details
Published in中国卒中杂志 Vol. 8; no. 6; pp. 426 - 431
Main Author 魏娜 牛松涛 李伟 张在强
Format Journal Article
LanguageChinese
Published 100050 北京 首都医科大学附属北京天坛医院神经内科 2013
Subjects
IV型胶原蛋白
基因
遗传性血管病、肾病、动脉瘤和肌肉痉挛综合征
遗传性血管病、肾病、动脉瘤和肌肉痉挛综合征
Hereditary angiopathy with nephropathy, aneurysm and cramps syndrome
型胶原蛋白
Gene
基因
Type IV collagen
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ISSN1673-5765

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Summary:目的对1例遗传性血管病、肾病、动脉瘤和肌肉痉挛（hereditary angiopathy with nephropathy, aneurysm and cramps,HANAC）综合征患者进行临床、病理及基因的分析. 方法收集患者病史、家族史,进行影像学检查、皮肤肾脏活检.对患者及家族成员进行COL4A1基因分析. 结果50岁女性患者,临床表现为脑白质病变、肾病、肌肉痉挛.皮肤活检可见小血管基底膜普遍性增厚,胶原组织增生.肾脏穿刺活检病理显示肾小球血管基底膜增厚,肾小管间质增生.COL4A1基因检测发现第1号外显子A1A/G杂合子突变,为起始密码子的突变. 结论 COL4A1基因第1号外显子起始密码子基因突变的临床表型为不典型的HANAC综合征.
Bibliography:11-5434/R
WEI Na, NIU Song- Tao, LI Wei, ZHANG Zai-Qiang. Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China
Objective To investigate the clinical manifestation, histopathology, and genotype in a patient with hereditary angiopathy with nephropathy, aneurysm and cramps （HANAC） syndrome. Methods The medical history, family history, neuro-imaging, biopsy of skin and kidney, and COL4A1 gene analysis of the patient were collected. Results A 50-year-old female presented with leukoencephalopathy, nephropathy, and muscle cramps. Histological analysis revealed complex basement-membrane defects in kidney and skin small vessels. Genetic analysis showed COL4A1 mutations localized in exon 1 （A1A/G） which is heterozygous mutation in the start codon. Conclusion The phenotype of COL4A1 mutation in the start codon of exon 1 was HANAC syndrome.
Hereditary angiopathy with nephropathy, aneurysm and cramps syndrome; Type IV collagen; Gene
ISSN:1673-5765