中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2012年
9期
654-658
,共5页
李亚勤%张成%杨娟%李洵桦%孙毅明%操基清%詹益鑫%利婧%郑民缨
李亞勤%張成%楊娟%李洵樺%孫毅明%操基清%詹益鑫%利婧%鄭民纓
리아근%장성%양연%리순화%손의명%조기청%첨익흠%리청%정민영
瓜氨酸血症%神经病学表现%线粒体膜转运蛋白质类%随访研究
瓜氨痠血癥%神經病學錶現%線粒體膜轉運蛋白質類%隨訪研究
과안산혈증%신경병학표현%선립체막전운단백질류%수방연구
Citrullinemia% Neurologic manifestations% Mitochondrial membrane transport proteins% Follow-up studies
目的 总结1例成人Ⅱ型瓜氨酸血症( CTLN2)的临床资料,提高临床医生对该病早期诊断、早期治疗和随访重要性的认识.方法 收集患者临床资料,仔细询问病史并进行体格检查和各项辅助检查.对患者及其女儿进行SLC25A13基因检测.结果 患者女性,27岁,因反复头晕、呕吐2年余,伴发作性意识模糊1年半就诊,肝脏B超、MRI及肝活体组织检查均示肝硬化.脑电图示异常尖波.血氨基酸检测示瓜氨酸升高,SLC25A13基因检测示851 del4纯合突变,患者女儿系851del4杂合突变.结论 对于成人不明原因的脂肪肝及肝硬化,特别是伴神经精神症状的患者应考虑到CTLN2,SLC25A13基因检测可帮助早期诊断.
目的 總結1例成人Ⅱ型瓜氨痠血癥( CTLN2)的臨床資料,提高臨床醫生對該病早期診斷、早期治療和隨訪重要性的認識.方法 收集患者臨床資料,仔細詢問病史併進行體格檢查和各項輔助檢查.對患者及其女兒進行SLC25A13基因檢測.結果 患者女性,27歲,因反複頭暈、嘔吐2年餘,伴髮作性意識模糊1年半就診,肝髒B超、MRI及肝活體組織檢查均示肝硬化.腦電圖示異常尖波.血氨基痠檢測示瓜氨痠升高,SLC25A13基因檢測示851 del4純閤突變,患者女兒繫851del4雜閤突變.結論 對于成人不明原因的脂肪肝及肝硬化,特彆是伴神經精神癥狀的患者應攷慮到CTLN2,SLC25A13基因檢測可幫助早期診斷.
목적 총결1례성인Ⅱ형과안산혈증( CTLN2)적림상자료,제고림상의생대해병조기진단、조기치료화수방중요성적인식.방법 수집환자림상자료,자세순문병사병진행체격검사화각항보조검사.대환자급기녀인진행SLC25A13기인검측.결과 환자녀성,27세,인반복두훈、구토2년여,반발작성의식모호1년반취진,간장B초、MRI급간활체조직검사균시간경화.뇌전도시이상첨파.혈안기산검측시과안산승고,SLC25A13기인검측시851 del4순합돌변,환자녀인계851del4잡합돌변.결론 대우성인불명원인적지방간급간경화,특별시반신경정신증상적환자응고필도CTLN2,SLC25A13기인검측가방조조기진단.
Objective To enhance clinicians' intention to the importance of early diagnosis,early therapy and follow-up of type Ⅱ citrullinemia.Methods The clinical data of one adult-onset type Ⅱ citrullinemia pedigree were collected. The gene mutation type of SLC25A13 of proband and her daughter were determined by PCR and direct gene sequencing.Results The patient was a 27 years-old female,who complained of repeated dizziness, vomiting for more than 2 years and recurrent attacks of altered consciousness for about one and a half year.An abdominal ultrasonogram,liver magnetic resonance imaging and liver histology obtained by needle biopsy all determined the liver pathological changes of liver cirrhosis.Electroencephalogram showed sharp waves. The plasma amino acid showed a marked elevation of blood citrulline.Laboratory findings revealed a highly increased concentration of plasma ammonia during every episode. Mutation analysis of the SLC25A13 gene identified a homozygote of 851del4 in the patient,and heterozygote of 851del4 in her daughter. Conclusions For adults,unexplained dizziness,vomiting,but liver function still in the compensation,especially accompanied by neuropsychologic symptoms are highly suggestive of adult-onset type Ⅱ citrullinemia.SLC25A13 gene analysis contributes to the diagnosis of this disease,avoids invasive investigations and early confirmation of this disease means long-term dietary advice,genetic counseling,medical surveillance and early preparation for liver transplantation if is necessary.
