CAJ | 학술논문

目的总结1例HtrA丝氨酸肽酶1(HTRA1)基因新突变导致的常染色体隐性遗传性脑动脉病伴皮质下梗死及白质脑病(CARASIL)患者临床特点.方法患者为34岁女性,下肢肌肉痉挛疼痛16年,腰痛、头痛、脱发5年,右侧轻偏瘫5个月,尿、便潴留1个月.脊椎MRI示颈椎和腰椎退行性变和椎间盘突出.头 MRI示广泛脑白质损害、多发腔隙性梗死灶.患者进行腓肠神经和皮肤活体组织检查.患者及其父母和2个弟弟均进行了HTRA1基因的直接测序,患者进行Notch3基因直接测序,以100名健康者作为对照.结果光镜下可见小动脉内弹力板不连续和内膜增厚,毛细血管基底膜增厚,电镜下呈现细颗粒样改变.患者HTRA1基因第2号外显子存在c.524T＞A纯合突变,其父母及2个弟弟存在c.524T＞A杂合突变.未发现Notch3基因突变.100名健康对照无此突变.结论 HTRA1基因c.524T＞A新突变导致的CARASIL可以伴随偏头痛和尿、便潴留.
목적 총결1례HtrA사안산태매1(HTRA1)기인신돌변도치적상염색체은성유전성뇌동맥병반피질하경사급백질뇌병(CARASIL)환자림상특점.방법 환자위34세녀성,하지기육경련동통16년,요통、두통、탈발5년,우측경편탄5개월,뇨、편저류1개월.척추MRI시경추화요추퇴행성변화추간반돌출.두 MRI시엄범뇌백질손해、다발강극성경사조.환자진행비장신경화피부활체조직검사.환자급기부모화2개제제균진행료HTRA1기인적직접측서,환자진행Notch3기인직접측서,이100명건강자작위대조.결과 광경하가견소동맥내탄력판불련속화내막증후,모세혈관기저막증후,전경하정현세과립양개변.환자HTRA1기인제2호외현자존재c.524T＞A순합돌변,기부모급2개제제존재c.524T＞A잡합돌변.미발현Notch3기인돌변.100명건강대조무차돌변.결론 HTRA1기인c.524T＞A신돌변도치적CARASIL가이반수편두통화뇨、편저류.
Objective To report a novel HTRA1 gene mutation caused cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) with migraine,urinary retention and constipation.Methods The patient was a 34-year-old woman who suffered from myalgia with cramp for 16 years,lumbago for 5 years,migraine and mild alopecia for 3 years,right hemiparesis for 5 months,and urinary retention and constipation for 1 month.Vertebral MRI showed degeneration of vertebral bodies with disc herniations.Brain MRI revealed diffuse white matter lesions and lacunar infarcts.Sural nerve and skin biopsies were performed in the patient. HTRA1 gene analysis was performed in patient,her parents and 2 brothers,and Notch3 gene analysis in the patient.Results The sural biopsy demonstrated discontinuous of elastica internal with thickness of intima of arterioles.The capillary basement membranes were thickness with mini granular changes.A homozygous T to A transition at position 524( c.524T ＞ A) was found in HTRA1 gene.The heterozygous c.524T ＞ A mutation appeared in the parents and 2 brothers,but not in the controls.Notch3 mutations were not found in the patient. Conclusion CARASIL caused by novel homozygous c.524T ＞ A mutation of HTRA1 gene can present with migraine,urinary retention and constipation.