摘要
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851de14纯合突变，患者女儿系851de14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。
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 uhrasonogram, 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 851de14 in the patient, and heterozygote of 851de14 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.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2012年第9期654-658,共5页
Chinese Journal of Neurology
基金
国家自然科学基金-广东省自然科学基金联合重点资助项目（U1032004）
国家自然科学基金面上项目（30870851）
广东省人口和计划生育委员会重点项目（201002）
关键词
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
Citrullinemia
Neurologic manifestations
Mitochondrial membrane transport proteins
Follow-up studies
