关键词: X-连锁肾上腺脑白质营养不良； ABCD1基因； 新发变异； Loes评分

Abstract: Objective To analyze and summarize clinical characteristics of X-ALD (X-linked adrenoleukodystrophy) in 39 children. Methods We retrospectively analyze 39 childhood cases diagnosed as X-ALD. Results All 39 cases were male. Of them 27 cases were diagnosed for CCALD (Childhood Cerebral ALD) with intellectual deterioration, gait disturbance and visual disturbance as initial symptoms, 12 were diagnosed for Addison type with the only symptom of pigmentation, in which 2 cases were diagnosed by gene analysis without apparent symptoms or physical signs. Level of C 26 :0 elevated in all 39 cases. Three novel mutations in ABCD 1 gene, c. 578 C>G (p.Prp 193 Arg) , c. 1615 A>C (p.Met 539 Leu) and c. 2 _ 5 dupTGCC (p.Pro 2 =fs*) were found which had not been reported. Patients with base substitution mutations had higher Loes scores, and there was a significant difference in Loes scores between the base substitution group and the deletion/ duplication group. The prognosis of patients with CCALD type was worse than that of Addison type. Conclusion The initial symptoms of X-ALD in children were not typical, and there were three novel mutations needed to be further verified. The type of base substitution mutations could predict the progression, and early diagnosis is the key to improve the prognosis of X-ALD.

Key words: X-linked adrenoleukodystrophy; ABCD1 gene; novel mutation; Loes score