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

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

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。

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.