3例X-连锁肾上腺脑白质营养不良的临床表现及基因突变分析  

Clinical manifestations and gene mutation of X-linked adrenoleukodystrophy:case analysis

作　　者：刘现涛 张晓宁 张晓雨 赵岚岚 张松筠[1] Liu Xiantao;Zhang Xiaoning;Zhang Xiaoyu;Zhao Lanlan;Zhang Songyun(Department of Endocrinology,Second Hospital of Hebei Medical University,Shijiazhuang 050000,China;Department of Hematology of Handan First Hospital,Handan 056000,China;Department of Nephrology,Handan First Hospital,Handan 056000,China;Department of Psychiatry of the First Affiliated Hospital of Xi′an Jiaotong University,Xi′an 710000,China)

机构地区：[1]河北医科大学第二医院内分泌科,石家庄050000 [2]邯郸市第一医院血液内科,邯郸056000 [3]邯郸市第一医院肾内科,邯郸056000 [4]西安交通大学附属第一医院精神心理科,西安710000

出　　处：《中华内分泌代谢杂志》2023年第5期443-448,共6页Chinese Journal of Endocrinology and Metabolism

摘　　要：回顾分析3例X-连锁肾上腺脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)患者的临床表现、血生化与影像学检查、基因检测结果及治疗情况,并对肾上腺脑白质营养不良蛋白(adrenoleukodystrophy protein,ALDP)结构进行分析,提高对X-ALD的认识,减少误诊误治。3例患者均为男性,患者1、2为儿童脑型(childhood cerebral ALD,CCALD),患者3为肾上腺脊髓神经病,早期均被误诊。头颅MRI、血液学检查显示了X-ALD的神经系统脱髓鞘、肾上腺皮质功能不全以及极长链脂肪酸的堆积。ABCD1基因测序发现3种新发致病突变[c.910delins22(p.A304delins8)、c.887A>C(p.Y296S)、c.14511481del(p.P484fs)],影响ALDP的关键结构,进而致病。患者1、2行造血干细胞移植,术后病情继续进展;患者3病情较稳定。本研究发现了3种新的突变,扩充了X-ALD患者ABCD1基因突变谱;对于X-ALD,应早期识别、早期诊断,减少误诊误治。The clinical manifestations,biochemical parameters and imaging examination,genetic test results,and treatment of 3 cases of X-linked adrenoleukodystrophy(X-ALD)patients were reviewed and analyzed,and the structure of adrenoleukodystrophy protein(ALDP)was analyzed.All 3 patients were male.Patients 1 and 2 were childhood cerebral ALD(CCALD),patients 3 was adrenomyeloneuropathy(AMN),and all of them were misdiagnosed at early stage.Brain magnetic resonance imaging(MRI),and hematologic examinations showed the neurological demyelination of X-ALD,adrenocortical insufficiency,and accumulation of very long chain fatty acids(VLCFAs).Sequencing of ABCD1 gene revealed 3 new pathogenic mutations[c.910delins22(p.A304delins8),c.887A>C(p.Y296S),and c.1451_1481del(p.P484fs)],which affected the key structure of ALDP and led to the disease.Patients 1 and 2 received hematopoietic stem cell transplantation,and their condition continued to progress after surgery.Patient 3 was in stable condition.The misdiagnosis rate of X-ALD is high,clinicians should be vigilant.In this study,3 new mutations were found,which expanded the ABCD1 gene mutation spectrum in patients with X-ALD.It is important to note that early identification and early diagnosis of X-ALD should be made to reduce misdiagnosis and mistreatment.

关 键 词：X-连锁肾上腺脑白质营养不良 极长链脂肪酸 基因突变 造血干细胞移植 

分 类 号：R596.1[医药卫生—内科学]