X连锁肾上腺脑白质营养不良新生儿筛查与早期干预的意义、现状与展望

doi:10.12372/jcp.2026.26e0502

临床儿科杂志 ›› 2026, Vol. 44 ›› Issue (8): 675-681.doi: 10.12372/jcp.2026.26e0502

• 专家笔谈 • 下一篇

X连锁肾上腺脑白质营养不良新生儿筛查与早期干预的意义、现状与展望

杨昕¹^,², 陈迟¹^,², 杨茹莱¹^,²()

¹ 浙江大学医学院附属儿童医院遗传与代谢科儿童少年健康与疾病国家临床医学研究中心（浙江杭州 310052）
² 全省新生儿疾病重点实验室（杭州 310052）

收稿日期:2026-04-24 修回日期:2026-06-11 录用日期:2026-06-15 出版日期:2026-08-15 发布日期:2026-08-03
通讯作者: 杨茹莱 E-mail:chsczx@zju.edu.cn
作者简介:第一联系人：作者贡献（Authors’ Contributions）
杨昕负责相关文献查询以及文章撰写，陈迟参与思路探讨以及文献查询，杨茹莱给予总体指导。
基金资助:
浙江省“尖兵领雁+X”研发攻关计划(2024C03151);国家重点研发计划(2022YFC2703401)

Newborn screening and early intervention for X-linked adrenoleukodystrophy: significance, current status, and future perspectives

YANG Xin¹^,², CHEN Chi¹^,², YANG Ruilai¹^,²()

¹ Department of Genetics and Metabolism, Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents’ Health and Diseases, Hangzhou 310052, Zhejiang, China
² Zhejiang Key Laboratory of Neonatal Diseases, Hangzhou, 310052, Zhejiang, China

Received:2026-04-24 Revised:2026-06-11 Accepted:2026-06-15 Published:2026-08-15 Online:2026-08-03
Contact: YANG Ruilai E-mail:chsczx@zju.edu.cn

摘要/Abstract

摘要：

X连锁肾上腺脑白质营养不良（X-ALD）是一种进展迅速、致残致死率高的X连锁隐性遗传病，早期识别并及时启动症状前干预是改善患者预后的关键。目前，国际上已广泛开展X-ALD的新生儿筛查。近年来，我国部分省市依托迭代更新的质谱检测平台，正在尝试将X-ALD纳入常规新生儿筛查项目，但尚未建立标准化的筛查方案。本文系统综述X-ALD的临床特征、早期干预路径、新生儿筛查的价值及国内外实践经验与挑战，阐述X-ALD筛查的必要性以及现阶段亟待突破的关键问题，旨在为探索适合中国人群的X-ALD新生儿筛查与早期干预的规范化实施方案及推广提供科学依据和思考。

关键词: X连锁肾上腺脑白质营养不良, 新生儿筛查, 过氧化物酶体病, 实践路径

Abstract:

X-linked adrenoleukodystrophy (X-ALD) is a severe, progressive peroxisomal disorder inherited in an X-linked recessive pattern, characterized by high morbidity, neurologic deterioration, and premature mortality. Early identification and timely initiation of presymptomatic intervention are crucial for improving patient outcomes. Currently, newborn screening for X-ALD has been widely implemented internationally. In recent years, some provinces and cities in China have begun exploring the inclusion of X-ALD in routine newborn screening programs, leveraging advanced mass spectrometry platforms, but a standardized screening protocol has yet to be established. This article systematically reviews the clinical features of X-ALD, early intervention strategies, the value of newborn screening, and international and domestic practices and challenges. It highlights the necessity of X-ALD screening and identifies key issues requiring urgent resolution at this stage, aiming to provide scientific evidence and insights for developing and promoting standardized screening and early intervention protocols tailored to the Chinese population.

Key words: X-linked adrenoleukodystrophy, newborn screening, peroxisomal disorder, practical path

中图分类号:

杨昕, 陈迟, 杨茹莱. X连锁肾上腺脑白质营养不良新生儿筛查与早期干预的意义、现状与展望[J]. 临床儿科杂志, 2026, 44(8): 675-681.

YANG Xin, CHEN Chi, YANG Ruilai. Newborn screening and early intervention for X-linked adrenoleukodystrophy: significance, current status, and future perspectives[J]. Journal of Clinical Pediatrics, 2026, 44(8): 675-681.

图/表 2

表1

表2

不同国家或地区X-ALD生物标志物筛查方案"

国家/地区	一级筛查			二级筛查			说明
国家/地区	筛查方法	筛查指标	切值	筛查方法	筛查指标	切值	说明
美国纽约州^[13]	MS/MS	C26:0-LPC	未公布	HPLC-MS/MS	C26:0-LPC	未公布
荷兰^[22]	FIA- MS/MS	C26:0-LPC	≥0.32μmol/L	HPLC-MS/MS	C26:0-LPC	≥0.15μmol/L	对一级筛查阳性新生儿进行X染色体数量检测，仅对其中男性新生儿进行二级筛查
中国台湾^[17]	FIA- MS/MS	C26:0-LPC	≥0.3μmol/L	LC-MS/MS	C26:0-LPC	≥0.3μmol/L
日本^[23]	HPLC-MS/MS	C26:0-LPC，C24:0-LPC	未公布	HPLC-MS/MS	C26:0-LPC，C24:0-LPC	未公布	一级筛查阳性重新采集干血斑行二级筛查
意大利^[24]	FIA- MS/MS	C20:0-LPC，C22:0-LPC，C24:0-LPC，C26:0-LPC，C20，C22，C24，C26	C26:0-LPC≥ 0.5μmol/L （CLIR分析）	UHPLC-MS/MS	C26:0-LPC，C26	C26:0-LPC>0.1μmol/L
美国加利福尼亚州^[25]	FIA- MS/MS	C26:0-LPC	≥0.42μmol/L	LC-MS/MS	C26:0-LPC	≥0.22μmol/L	二级筛查切值起初为≥0.15μM，后调整为≥0.22μM
美国明尼苏达州^[26]	LC-MS/MS	C26:0-LPC	阳性：≥0.3μmol/L；临界值：0.16~ 0.29μmol/L	LC-MS/MS	C26:0-LPC	≥0.16μmol/L	一级筛查阳性直接召回行诊断性检查，位于临界范围者重新采集干血斑行二级筛查。
美国伊利诺伊州^[27]	LC-MS/MS	C26:0-LPC	阳性：≥0.28μmol/ L；临界值：0.18~ 0.27μmol/L	LC-MS/MS	C26:0-LPC	阳性：≥0.28μM；临界值：0.18~ 0.27μmol/L	一级筛查阳性原血片复查仍为阳性则直接召回行诊断性检查。位于临界范围者重新采集干血斑行二级筛查。两次检测结果不一致或C24:0-LPC<0.02μM视为无效样本，重新采样。
美国佐治亚州^[28]	FIA- MS/MS	C20:0-LPC，C22:0-LPC，C24:0-LPC，C26:0-LPC及其比值	CLIR分析判定阳性	LC-MS/MS	C26:0-LPC	>0.3μmol/L	一级筛查检测结果利用CLIR结合年龄调整的参考范围和确诊病例数据，生成综合评分，评分高于确诊病例评分分布的1%分位数即为阳性
美国北卡罗来纳州^[29]	LC-MS/MS	C26:0-LPC，C24:0-LPC	C26:0-LPC≥ 0.08μmol/L或C24:0-LPC≥ 0.175μmol/L	LC-MS/MS （原血片复查）	C26:0-LPC，C24:0-LPC	C26:0-LPC平均值在0.08-0.15 μmol/L之间伴C24:0-LPC≥0,175 μmol/L或C26:0-LPC平均值≥0,15 μmol/L
美国宾夕法尼亚州、内布拉斯加州^[30-31]	FIA- MS/MS	C26:0-LPC	>0.36μmol/L	LC-MS/MS	C26:0-LPC	>0.15μmol/L	二级筛查阳性重新采集干血斑复查二级检测
中国广东省^[37]	LC-MS/MS	C26:0-LPC	≥0.17μmol/L				初次检测及原血片复查均高于切值即判定为阳性，予以召回行基因检测，未进行二级筛查

表2

参考文献 40

[1]	Engelen M, Kemp S, de Visser M, et al. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management[J/OL]. Orphanet J Rare Dis, 2012, 7:51. https://doi.org/10.1186/1750-1172-7-51.
[2]	Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy[J/OL]. Nat Clin Pract Neurol, 2007, 3(3):140-51. https://doi.org/10.1038/ncpneuro0421.
[3]	Mahmood A, Raymond GV, Dubey P, et al. Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study[J/OL]. Lancet Neurol, 2007, 6(8): 687-692. https://doi.org/10.1016/S1474-4422(07)70177-1.
[4]	Turk BR, Theda C, Fatemi A, et al. X-linked adrenoleukodystrophy: pathophysiology, diagnostic testing, newborn screening and therapies[J/OL]. Int J Dev Neurosci, 2020, 80(1): 52-72. https://doi.org/10.1002/jdn.10003.
[5]	Wiesinger C, Eichler FS, Berger J. The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis[J/OL]. Appl Clin Genet. 2015, 8: 109-121. https://doi.org/10.2147/TACG.S49590.
[6]	Moser HW, Loes DJ, Melhem ER, et al. X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients[J/OL]. Neuropediatrics. 2000, 31(5): 227-239. https://doi.org/10.1055/s-2000-9236.
[7]	中华医学会儿科学分会血液学组, 中华医学会儿科学分会神经学组, 中华医学会儿科学分会内分泌遗传代谢学组, 等. 异基因造血干细胞移植治疗脑型肾上腺脑白质营养不良中国专家共识(2023)[J/OL]. 中华儿科杂志, 2024, 62(4): 303-309. https://doi.org/10.3760/cma.j.cn112140-20231019-00302.
	Subspecialty Group of Hematology, the Society of Pediatrics, Chinese Medical Association; Subspecialty Group of Neurology, the Society of Pediatrics, Chinese Medical Association, et al. Chinese expert consensus on allogeneic hematopoietic stem cell transplantation for cerebral adrenoleukodystrophy (2023)[J/OL]. Zhonghua Erke Zazhi. 2024, 62(4): 303-309. https://doi.org/10.3760/cma.j.cn112140-20231019-00302.
[8]	Peters C, Charnas LR, Tan Y, et al. Cerebral X-linked adrenoleukodystrophy:the international hematopoietic cell transplantation experience from 1982 to 1999[J/OL]. Blood, 2004, 104(3): 881-888. https://doi.org/10.1182/blood-2003-10-3402.
[9]	Miller WP, Rothman SM, Nascene D, et al. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report[J/OL]. Blood, 2011, 118(7): 1971-1978. https://doi.org/10.1182/blood-2011-01-329235.
[10]	Chiesa R, Boelens JJ, Duncan CN, et al. Variables affecting outcomes after allogeneic hematopoietic stem cell transplant for cerebral adrenoleukodystrophy[J/OL]. Blood Adv, 2022, 6(5): 1512-1524. https://doi.org/10.1182/bloodadvances.2021005294.
[11]	Matsukawa T, Yamamoto T, Honda A, et al. Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy[J/OL]. Brain Commun, 2020, 2(1): fcz048. https://doi.org/10.1093/braincomms/fcz048.
[12]	Weinhofer I, Zierfuss B, Hametner S, et al. Impaired plasticity of macrophages in X-linked adrenoleukodystrophy[J/OL]. Brain, 2018, 141(8): 2329-2342. https://doi.org/10.1093/brain/awy127.
[13]	Vogel BH, Bradley SE, Adams DJ, et al. Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines[J/OL]. Mol Genet Metab, 2015, 114(4): 599-603. https://doi.org/10.1016/j.ymgme.2015.02.002.
[14]	Engelen M, Mallack EJ, et al. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: a consensus-based approach[J/OL]. Neurology, 2022, 99(21): 940-951. https://doi.org/10.1212/WNL.0000000000201374.
[15]	胡佳悦, 应令雯, 常国营, 等. 8例儿童异染性脑白质营养不良临床表型、遗传学分析及异基因造血干细胞移植疗效观察[J/OL]. 临床儿科杂志, 2025, 43(10): 734-741. https://doi.org/10.12372/jcp.2025.25e0117.
	Hu JY, Ying LW, Chang GY, et al. Clinical phenotypes, genetic analysis and allogeneic hematopoietic stem cell transplantation efficacy of 8 children with metachromatic leukodystrophy[J/OL]. Linchuang Erke Zazhi, 2025, 43(10): 734-741.https://doi.org/10.12372/jcp.2025.25e0117.
[16]	Ramirez Alcantara J, Grant NR, Sethuram S, et al. Early detection of adrenal insufficiency: the impact of newborn screening for adrenoleukodystrophy[J/OL]. J Clin Endocrinol Metab, 2023, 108(11): e1306-e1315. https://doi.org/10.1210/clinem/dgad286.
[17]	Chen HA, Hsu RH, Chen PW, et al. High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan[J/OL]. Mol Genet Metab Rep, 2022, 32:100902. https://doi.org/10.1016/j.ymgmr.2022.100902.
[18]	Armangue T, Orsini JJ, Takanohashi A, et al. Neonatal detection of aicardi goutières syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots[J/OL]. Mol Genet Metab, 2017, 122(3): 134-139. https://doi.org/10.1016/j.ymgme.2017.07.006.
[19]	Hsu RH, Lee NC, Chen HA, et al. Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: a case report[J/OL]. Mol Genet Metab Rep, 2024, 41: 101137. https://doi.org/10.1016/j.ymgmr.
[20]	Niehaus AD, Mendelsohn BA, Zimmerman B, et al. Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy[J/OL]. Am J Med Genet A, 2023, 191(5): 1412-1417. https://doi.org/10.1002/ajmg.a.63144.
[21]	Hubbard WC, Moser AB, Tortorelli S, et al. Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings[J/OL]. Mol Genet Metab, 2006, 89(1-2): 185-187. https://doi.org/10.1016/j.ymgme.2006.05.001.
[22]	Barendsen RW, Dijkstra IME, Visser WF, et al. Adrenoleukodystrophy newborn screening in the Netherlands (SCAN study): the X-factor[J/OL]. Front Cell Dev Biol, 2020, 8: 499. https://doi.org/10.3389/fcell.2021.631655.
[23]	Shimozawa N, Takashima S, Kawai H, et al. Advanced diagnostic system and introduction of newborn screening of adrenoleukodystrophy and peroxisomal disorders in Japan[J/OL]. Int J Neonatal Screen, 2021, 7(3): 58. https://doi.org/10.3390/ijns7030058.
[24]	Bonaventura E, Alberti L, Lucchi S, et al. XALD-NBS study group. Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring[J/OL]. Front Neurol, 2023, 13: 1072256. https://doi.org/10.3389/fneur.2022.1072256.
[25]	Matteson J, Sciortino S, Feuchtbaum L, et al. Adrenoleukodystrophy newborn screening in California since 2016:programmatic outcomes and follow-up[J/OL]. Int J Neonatal Screen, 2021, 7(2): 22. https://doi.org/10.3390/ijns7020022.
[26]	Rayannavar A, Billington CJ Jr, Tryon R, et al. Insights from Minnesota on newborn screening for adrenoleukodystrophy:a 5-year update[J/OL]. Am J Med Genet A, 2025, 197(5): e63995. https://doi.org/10.1002/ajmg.a.63995.
[27]	Burton BK, Hickey R, Hitchins L, et al. Newborn screening for X-linked adrenoleukodystrophy: the initial illinois experience[J/OL]. Int J Neonatal Screen, 2022, 8(1): 6. https://doi.org/10.3390/ijns8010006.
[28]	Hall PL, Li H, Hagar AF, et al. Newborn screening for X-linked adrenoleukodystrophy in Georgia:experiences from a pilot study screening of 51,081 newborns[J/OL]. Int J Neonatal Screen, 2020, 6(4): 81. https://doi.org/10.3390/ijns6040081.
[29]	Lee S, Clinard K, Young SP, et al. Evaluation of X-linked adrenoleukodystrophy newborn screening in North Carolina[J/OL]. JAMA Netw Open, 2020, 3(1): e1920356. https://doi.org/10.1001/jamanetworkopen.2019.20356.
[30]	Priestley JRC, Adang LA, Drewes Williams S, et al. Newborn screening for X-linked adrenoleukodystrophy: review of data and outcomes in Pennsylvania[J/OL]. Int J Neonatal Screen, 2022, 8(2): 24. https://doi.org/10.3390/ijns8020024.
[31]	Baker CV, Cady Keller A, Lutz R, et al. Newborn screening for X-linked adrenoleukodystrophy in Nebraska: initial experiences and challenges[J/OL]. Int J Neonatal Screen, 2022, 8(2): 29. https://doi.org/10.3390/ijns8020029.
[32]	Bonaventura E, Bruschi F, Alberti L, et al. Newborn screening of X-linked adrenoleukodystrophy in Italy:clinical and biochemical outcomes from a 4-year pilot study[J/OL]. Int J Neonatal Screen, 2025, 11(4): 84. https://doi.org/10.3390/ijns11040084.
[33]	Albersen M, van der Beek SL, Dijkstra IME, et al. Sex-specific newborn screening for X-linked adrenoleukodystrophy[J/OL]. J Inherit Metab Dis, 2023, 46(1): 116-128. https://doi.org/10.1002/jimd.12571.
[34]	Mares Beltran CF, Tise CG, Barrick R, Niehaus AD, et al. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): biochemical, molecular, and clinical characteristics of other genetic conditions[J/OL]. Genes (Basel), 2024, 15(7): 838. https://doi.org/10.3390/genes15070838.
[35]	Natarajan A, Christopher R, Netravathi M, et al. Flow injection ionization-tandem mass spectrometry-based estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy[J/OL]. Clin Chim Acta, 2019, 495: 167-173. https://doi.org/10.1016/j.cca.2019.04.059. doi: S0009-8981(19)31809-1 pmid: 30980791
[36]	Zhu Z, Genchev GZ, Wang Y, et al. Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients[J/OL]. Orphanet J Rare Dis, 2023, 18(1): 102. https://doi.org/10.1186/s13023-023-02673-x.
[37]	Tang C, Tang F, Cai Y, et al. A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population[J/OL]. Clin Chim Acta, 2024, 552: 117653. https://doi.org/10.1016/j.cca.2023.117653. doi: 10.1016/j.cca.2023.117653
[38]	Tang C, Tan M, Cai Y, et al. Optimization of the performance of newborn screening for X-linked adrenoleukodystrophy by flow injection analysis tandem mass spectrometry[J/OL]. Int J Neonatal Screen, 2025, 11(3): 71. https://doi.org/10.3390/ijns11030071.
[39]	Yang RL, Qian GL, Wu DW, et al. A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China[J/OL]. World J Pediatr, 2023, 19(7): 663-673. https://doi.org/10.1007/s12519-022-00670-x.
[40]	Tong F, Wang J, Xiao R, et al. Application of next generation sequencing in the screening of monogenic diseases in China, 2021:a consensus among Chinese newborn screening experts[J/OL]. World J Pediatr, 2022, 18(4): 235-242. https://doi.org/10.1007/s12519-022-00522-8.

分型	占比/%	发病年龄	主要临床表现
儿童脑型ALD	31~35	3~10岁，高峰期为7岁	进行性行为和认知障碍；运动能力倒退；炎症性脑脱髓鞘病变；绝大多数有PAI表现；进展迅速，通常在发病后2~4年陷入植物状态或死亡
青少年脑型ALD	4~7	11~21岁	与儿童型相似，进展速度相对缓慢
成人脑型ALD	2~5	>21岁	痴呆、行为障碍和局灶性神经功能障碍；病程与儿童型相似
AMN	40~46	20~40岁	进行性痉挛性截瘫、感觉性共济失调、括约肌功能障碍。大部分合并有PAI；大多数情况下进展缓慢；40%~45%患者伴随脑部MRI异常表现
单纯Addison病型	10	2岁~成年，最常见于7.5岁	PAI，无明显的神经系统受累
无症状型	随年龄增长而减少		存在生化和基因异常，但无肾上腺功能不全和神经系统受累表现
杂合子型	—	高度异质性，大多>40岁	指女性携带者；65%的女性携带者60岁后出现AMN症状；脑部受累（2%）和PAI（1%）罕见

X连锁肾上腺脑白质营养不良新生儿筛查与早期干预的意义、现状与展望

Newborn screening and early intervention for X-linked adrenoleukodystrophy: significance, current status, and future perspectives

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