Clinical manifestations and gene mutation of X-linked adrenoleukodystrophy: case analysis
10.3760/cma.j.cn311282-20210401-00208
- VernacularTitle:3例X-连锁肾上腺脑白质营养不良的临床表现及基因突变分析
- Author:
Xiantao LIU
1
;
Xiaoning ZHANG
;
Xiaoyu ZHANG
;
Lanlan ZHAO
;
Songyun ZHANG
Author Information
1. 河北医科大学第二医院内分泌科，石家庄 050000
- Keywords:
X-linked adrenoleukodystrophy;
Verylong chain fatty acids;
Gene mutation;
Haematopoietic stem cell transplantation
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(5):443-448
- CountryChina
- Language:Chinese
-
Abstract:
The clinical manifestations, biochemical parameters and imaging examination, genetic test results, and treatment of 3 cases of X-linked adrenoleukodystrophy(X-ALD) patients were reviewed and analyzed, and the structure of adrenoleukodystrophy protein(ALDP) was analyzed. All 3 patients were male. Patients 1 and 2 were childhood cerebral ALD(CCALD), patients 3 was adrenomyeloneuropathy(AMN), and all of them were misdiagnosed at early stage. Brain magnetic resonance imaging(MRI), and hematologic examinations showed the neurological demyelination of X-ALD, adrenocortical insufficiency, and accumulation of very long chain fatty acids(VLCFAs). Sequencing of ABCD1 gene revealed 3 new pathogenic mutations[c.910delins22(p.A304delins8), c. 887A>C(p.Y296S), and c. 1451_1481del(p.P484fs)], which affected the key structure of ALDP and led to the disease. Patients 1 and 2 received hematopoietic stem cell transplantation, and their condition continued to progress after surgery. Patient 3 was in stable condition. The misdiagnosis rate of X-ALD is high, clinicians should be vigilant. In this study, 3 new mutations were found, which expanded the ABCD1 gene mutation spectrum in patients with X-ALD. It is important to note that early identification and early diagnosis of X-ALD should be made to reduce misdiagnosis and mistreatment.
