Clinical characteristics and gene mutation analysis of 4 cases of X-linked adrenoleukodystrophy presenting with adrenal insufficiency as the initial manifestation
10.3760/cma.j.cn311282-20240728-00330
- VernacularTitle:4例以肾上腺皮质功能减退为首发症状的X-连锁肾上腺脑白质营养不良的临床特点及基因突变分析
- Author:
Huijin ZHANG
1
;
Yongzhuo YU
1
;
Lili XU
1
;
Yu XUE
1
;
Zhongchao WANG
1
;
Yunyang WANG
1
;
Wenshan LYU
1
;
Yangang WANG
1
;
Bingzi DONG
1
Author Information
1. 青岛大学附属医院内分泌科，青岛 266003
- Publication Type:Journal Article
- Keywords:
X-linked adrenoleukodystrophy;
Adrenocortical insufficiency;
Addison′s disease;
ABCD1 gene;
Very long-chain fatty acids
- From:
Chinese Journal of Endocrinology and Metabolism
2025;41(5):424-429
- CountryChina
- Language:Chinese
-
Abstract:
X-linked adrenoleukodystrophy(X-ALD) is an inherited progressive neurometabolic disorder caused by mutations in the ATP-binding cassette subfamily D member 1(ABCD1) gene. The encoded ALD protein dysfunction leads to the accumulation of very-long-chain fatty acids(VLCFA). X-ALD is classified according to its clinical characteristics into childhood cerebral ALD, adolescent cerebral ALD, adult cerebral ALD, adrenomyeloneuropathy(AMN), pure adrenocortical insufficiency, and an asymptomatic phenotype, all of which can present with a variety of neurologic manifestations. In this study, we retrospectively analyzed the clinical manifestations, laboratory findings, genetic test results, and follow-up data of four patients with X-ALD, and investigated the clinical features and pathogenicity of the identified gene mutations. All four patients initially presented with adrenocortical insufficiency(Addison′s disease) and received glucocorticoid replacement therapy. Subsequently, all developed neurologic signs and symptoms with rapid progression. The final diagnosis was confirmed based on elevated VLCFA levels, brain magnetic resonance imaging(MRI) findings, and genetic analysis. Notably, a deletion mutation in Exon 10 of the ABCD1 gene was identified in one case for the first time. We report four cases of X-ALD presenting with adrenocortical insufficiency as the initial symptom, and briefly review the relevant literature to analyze the relationship between linical phenotypes and genetic loci, aiming to provide a reference for early diagnosis and treatment of the disease, and to reduce the risk of misdiagnosis and missed diagnosis.
