X连锁肾上腺脑白质营养不良1家系报告并文献复习  

ANALYSIS OF THE FAMILY OF A PATIENT WITH X-LINKED ADRENOLEUKODYSTROPHY AND LITERATURE REVIEW

作　　者：姜荆 靳阳 吴玉娇[1,2] 刘学伍 JIANG Jing;JIN Yang;WU Yujiao;LIU Xuewu(Cheeloo College of Medicine,Shandong University,Jinan 250012,China)

机构地区：[1]山东大学齐鲁医学院,山东济南250012 [2]山东大学癫痫病学研究所 [3]山东第一医科大学附属省立医院

出　　处：《精准医学杂志》2023年第5期451-454,共4页Journal of Precision Medicine

基　　金：国家自然科学基金项目(81873786);济南市科技计划项目(201704102)。

摘　　要：目的分析1例X连锁肾上腺脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)患者家系中发现的ATP结合盒超家族D亚家族1(ABCD1)基因突变位点,结合患者家系临床资料及相关文献,探讨X-ALD的诊断、治疗及预后。方法回顾性分析2021年11月就诊我院神经内科的1例X-ALD患者的临床资料及其家系情况,并检索国内外相关文献进行复习讨论。结果患者主要表现为皮肤发黑、头晕头痛、全身不适、乏力、疲惫、低血压、食欲减退、睡眠欠佳等肾上腺皮质功能减退症状及双下肢轻瘫的神经系统异常。其父母、一兄一姐、其兄之子及其姐之子均未见相关临床表现。患者颅脑及脊髓MRI检查未见异常,基因检测示患者ABCD1基因存在一处半合子突变(c.1628C>T),其母ABCD1基因存在杂合突变,其父ABCD1基因未见异常。结论X-ALD存在多种类型,可出现肾上腺皮质功能减退及中枢神经系统异常症状,本例X-ALD患者为肾上腺脊髓神经病型,ABCD1基因第6号外显子的1处突变(c.1628C>T:p.P543L)为本患者致病原因,MRI在X-ALD的诊断中或无决定性作用。Objective To analyze the mutation site in the ATP-binding cassette subfamily D member 1 gene(ABCD 1)in the family of a patient with X-linked adrenoleukodystrophy(X-ALD),and to explore the diagnosis,treatment,and prognosis of X-ALD based on the patient family clinical data and related literature.Methods The clinical data and family information of a patient with X-ALD admitted to the Neurology Department of our hospital in November 2021 were retrospectively analyzed,and relevant literature worldwide was retrieved for review and discussion.Results The main symptoms of the patient were skin blackening,dizziness,headache,general discomfort,fatigue,low blood pressure,loss of appetite,and poor sleep and other symptoms associated with adrenocortical insufficiency,as well as nervous system abnormalities such as lower limb palsy.His parents,brother,sister,son of brother,and son of sister had no related clinical manifestations.Magnetic resonance imaging of the brain and spinal cord showed no abnormalities.Genetic testing showed that the proband had a hemizygous mutation in ABCD 1(c.1628C>T),the mother had a heterozygous mutation in ABCD 1,and the father had normal ABCD 1.Conclusion There are many types of X-ALD with adrenocortical hypofunction or central nervous system abnormal symptoms.In this case,the patient shows the adrenomyeloneuropathy form of X-ALD.A mutation in the exon 6 of ABCD 1(c.1628C>T:p.P543L)is the cause of the disease.Magnetic resonance imaging may not play a decisive role in the diagnostic of X-ALD.

关 键 词：肾上腺脑白质营养不良 ATP结合盒转运体 亚家族D 成员1 突变 

分 类 号：R586.9[医药卫生—内分泌] R394[医药卫生—内科学]