肾上腺脑白质营养不良脊髓型一家系报道
张璐璐;李建章;陈文武;
摘要(Abstract):
<正>肾上腺脑白质营养不良脊髓型又称肾上腺脊髓病(adrenomyeloneuropathy,AMN)是肾上腺脑白质营养不良的一特殊的变异类型,为X-连锁的隐形遗传性疾病,是过氧化物酶体病的一种类型。临床上多以成年起病,首先出现的症状为肾上腺皮质功能减退,随后出现进展性的神经功能障碍、括约肌和性功能障碍等,临床少见,容易漏诊、误诊,国内报道多以单个的病例报告多见,本文对作者医院诊断为肾上腺
关键词(KeyWords): 肾上腺脑白质营养不良;脊髓型;肾上腺功能不全;遗传性疾病;神经系统损害
基金项目(Foundation):
作者(Authors): 张璐璐;李建章;陈文武;
参考文献(References):
- [1]BOONEN E,VERVENNE H,MEERSSEMAN P,et al.Reduced cortisol metabolism during critical illness[J].N Engl J Med,2013,368(5):1 477-1 488.
- [2]ZELISSEN P M,BAST E J,CROUGHS R J.Associated autoimmunity in Addison’s disease[J].J Autoimmun,1995,8(2):121-130.
- [3]ENGELEN M,KEMP S,POLL-THE B T.X-linked adrenoleukodystrophy:pathogenesis and treatment[J].CurrNeurolNeurosci Rep,2014,14(10):486.
- [4]MOSER H W,MAHMOOD A,RAYMOND G V.x—linked adrenoleukodystrophy[J].Nat ClinPractNeurol,2007,3(3):140-151.
- [5]ROPPER A H,ALLAN H,BROWN R H.The inherited meta-bolic diseasesof the nervous system.In:Ropper AH,Samuels MA,editors.Adams and Victors’Principles of Neurology[M].8thed.New York:McGrawHill,2005:837-838.
- [6]BALCER L J,PRASAD S.Abnormalities of optic nerve and retina.In:Daroff RB,Fenichel GM,Jankovic J,Mazziotta JC,editors.Bradley’s Neurology in Clinical Practice[M].6 thed.Philadelphia:Elsevier Saunders,2012:172-175.
- [7]SPUREK M,TAYLOR-GJEVRE R,VAN UUM S,etal.Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis[J].CMAJ,2004,171(9):1 073-1 077.
- [8]LECUMBERRI B,GIRS M L,COLL M J,et al.Diffuse hair loss in Addison disease:a reason for X-linked adrenoleukodystrophy screening[J].J Am AcadDermatol,2012,66(5):860-861.
- [9]ENGELEN M,BARBIER M,DIJKSTRA I M,et al.Xlinked adrenoleukodystrophy in women:a cross-sectional cohort study[J].Brain,2014,137(3):693-706.
- [10]SADEGHI-NEJAD A,SENIOR B.Adrenomyeloneuropathy presenting as Addison’s disease in childhood[J].N Engl J Med,1990,322(3):13-16.
- [11]王志红.一个肾上腺脑白质营养不良家系的ABCDl基因突变分析[J].中华神经医学杂志,2010,9(10):1045-1 047.
- [12]CHAUDHRY V,MOSER H W,CORNBLATH D R.Nerve conduction studies in adrenomyeloneuropathy[J].J Neurol Neurosurg Psychiatry,1996,61(7):181-185.