以肾上腺危象起病的肾上腺脑白质营养不良1家系分析  

Analysis of one family case of adrenoleukodystrophy with onset of adrenal crisis

作　　者：孙文君 于飞[1] SUN Wenjun;YU Fei(Department of Endocrine Genetic Metabolism in Children,Maternal and Child Hospital of Hubei Province Tongji Medical College Huazhong University of Science and Technology,Wuhan,Hubei 430000,China)

机构地区：[1]华中科技大学同济医学院附属湖北妇幼保健院儿童内分泌遗传代谢科,湖北武汉430000

出　　处：《中国优生与遗传杂志》2022年第1期102-105,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析1个以肾上腺危象起病的肾上腺脑白质营养不良症家系的临床表型和三磷酸腺苷(ATP)结合盒转运子超家族成员D1(ABCD1)基因突变特点。方法收集先证者及其家系(共3代)成员临床资料,分析该家系成员的临床特点,并采用芯片捕获高通量测序方法对先证者及其父母、舅舅、姐姐进行ABCD1基因检测。结果先证者为男性,7岁3个月,以肾上腺危象起病,经基因证实为肾上腺脑白质营养不良,先证者舅舅5岁时出现皮肤色素沉着,10岁出现运动障碍,现35岁拄拐杖行走,经基因验证与先证者为同一位点突变。先证者母亲为携带者。ABCD1基因结果为c454(exon1)C>T,p.R152C(p.Arg152Cys)变异。结论肾上腺脑白质营养不良可以肾上腺危象为首发表现,同一突变位点可表现为不同的临床症状,详尽的家系图谱可为该疾病提供更多的临床证据。Objective To analyze a family with the clinical phenotype of adrenoleukodystrophy with adrenal crisis,and the mutation of adenosine triphosphate(ATP)binding caspate protein(sub-family D1)of binding superfamily-ABCD1 gene.Methods Clinical data of proband and its family members(3 generations)were collected.The sequences of ABCD1 of the proband,his parents and uncle,sister were detected by next-generation sequencing.Results The proband was male,7 years and 3 months old,he was characteristic of primary adrenal crisis and his uncle developed skin pigmentation at the age of 5 and dyskinesia at the age of 10.His uncle was walking with crutches at the age of 35.The proband had the same mutation locus as him verified by gene.The proband’s mother was the carrier.ABCD1 gene mutation was c454(exon1)C>t,p.r152c(P.arg152 cys).Conclusion Primary adrenal crisis can be the feature of adrenoleukodystrophy in children.The same mutation locus can show different clinical symptoms.Detailed family map can provide more clinical evidence for the disease.

关 键 词：肾上腺脑白质营养不良 肾上腺危象 ABCD1突变 

分 类 号：R596[医药卫生—内科学]