ECEESPE2025 Poster Presentations Adrenal and Cardiovascular Endocrinology (169 abstracts)
Clinical characteristics and outcomes in 31 pediatric cases of x-linked adrenoleukodystrophy: a retrospective study at SCMC
Juan Li 1 , Lingwen Ying 1 , Guoying Chang 1 , Yu Ding 1 , Tingting Yu 1 , Jing Chen 1 & Xiumin Wang 1
1Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
JOINT361
Objective: To investigate the clinical characteristics, treatment approaches, and prognosis of X-linked adrenoleukodystrophy (ALD) in children.
Methods: This study included 31 male pediatric patients diagnosed with ALD and treated at our hospital from 2015 to 2023. Loes score were assessed in all participants with cerebral ALD (cALD).
Results: Of the 31 patients, 24 presented with cALD, while 7 exhibited the adrenal-only type. Clinical manifestations in cALD primarily involved central nervous system symptoms, including visual/hearing impairment (9/24), seizures (7/24), cognitive deficits (4/24). Adrenal cortical insufficiency developed in 62.5% of cALD cases during follow-up. Patients with adrenal-only type primarily exhibited hyperpigmentation. Genetic analysis identified 29 distinct ABCD1 mutations, with missense mutations accounting for 75.9%, frameshift mutations for 20.7%, and 1 large deletion that containing ABCD1 gene. Three novel mutations were identified: c.77C > G, c.1119_1120 insTC, and c.1291C > T. Allogeneic hematopoietic stem cell transplantation (all-HSCT) was the primary treatment for early cALD, achieving a 5-year overall survival (OS) rate of 78.0% (64.0 ~ 86.6%) compared to 29.0% (95%CI 11.7 ~ 48.2%) in non-HSCT patients. A pre-transplantation Loes score < 10 was strongly associated with improved outcomes.
Conclusion: Early intervention with allo-HSCT significantly improves survival in pediatric cALD, particularly in patients with a Loes score < 10 before transplantation. Close monitoring is essential for progressive adrenal insufficiency, which remains a key phenotype of ALD.
Key words: X-linked adrenoleukodystrophy; ABCD1; gene mutation; Loes score
Volume 110
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Endocrine Abstracts
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