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

【摘要】
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。

A Clinical, Neuro-imaging, Pathological and Gene Analysis of a Patient with Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps Syndrome

【Abstract】
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.