CAJ | 학술논문

目的从临床表现、血浆极长链脂肪酸(VLCFA)、肾上腺皮质功能及影像学检查等方面对X-连锁肾上腺脑白质营养不良(ALD)进行分析,以提高对本病的认识.方法回顾性分析11例ALD患者临床表现、检查结果等临床资料.结果患者均为男性,起病年龄为9个月至16.25岁,平均(7.2±4.7)岁,出现症状至诊断时间(2.4±1.9)年,6例以肾上腺皮质功能减退(AI)起病,5例以神经系统表现起病,6例查血VLCFA均升高,9例查头颅MRI均提示脑白质脱髓鞘改变.结论 ALD是一种X-连锁隐性遗传过氧化物酶体脂质代谢病,临床表现为AI、精神运动障碍、视力、听力障碍等,血浆VLCFA检测、ALD基因突变分析、头颅MRI检查有助于诊断.骨髓移植对早期脑型ALD患者效果较好,早期诊断、适时干预有助于改善预后.
목적 종림상표현、혈장겁장련지방산(VLCFA)、신상선피질공능급영상학검사등방면대X-련쇄신상선뇌백질영양불량(ALD)진행분석,이제고대본병적인식.방법 회고성분석11례ALD환자림상표현、검사결과등림상자료.결과 환자균위남성,기병년령위9개월지16.25세,평균(7.2±4.7)세,출현증상지진단시간(2.4±1.9)년,6례이신상선피질공능감퇴(AI)기병,5례이신경계통표현기병,6례사혈VLCFA균승고,9례사두로MRI균제시뇌백질탈수초개변.결론 ALD시일충X-련쇄은성유전과양화물매체지질대사병,림상표현위AI、정신운동장애、시력、은력장애등,혈장VLCFA검측、ALD기인돌변분석、두로MRI검사유조우진단.골수이식대조기뇌형ALD환자효과교호,조기진단、괄시간예유조우개선예후.
Objective X-linked adrenoleukodystrophy (X-ALD) is a genetically determined disorder that is characterized by demyelination of central nervous system,and impaired adrenal cortex and abnormal accumulation of very long chain fatty acids in body fluid and tissue.The clinical manifestation,biochemical change,and magnetic resonance imaging were analyzed.Methods Clinical data of 11 cases with X-ALD were summarized and analyzed,including symptoms,signs,and inspection result.Relevant literature was reviewed.Results All cases were males,whose average onset age was (7.2 ± 4.7) year-old.It was (2.4 ± 1.9) years that the mean interval appears from onset to diagnosis.Six cases were with onset of adrenal insufficiency (AI),remaining 5 onset neural symptoms,where plasma very-long-chain fatty acids (VLCFA) was tested in 6 patients,all with abnormally high levels and brain magnetic resonance imaging(MRI) showed demyelination of cerebral white matter in 9 ones.Conclusions ALD is a X-linked genetically determined disorder that mainly affects the nervous system and adrenal gland.Plasma VLCFA test,ALD gene test,and cerebral MRI are reliable diagnostic methods.Early diagnosis and appropriate therapy would improve survival and neurological outcomes.