X 连锁肾上腺白质营养不良症:病例报告

N. Hudiakova, I. Pchelin, A. Shishkin, P. V. Vasilev, N. Semigolovskii, S. Mazurenko, V. V. Smirnov, N. V. Ivanov
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摘要

本文描述了一例临床病例,患者 32 岁,肾上腺肌萎缩性神经病的诊断较晚,表现为逐渐加重的神经系统症状,被误认为是遗传性痉挛性截瘫,后合并肾上腺功能不全。众所周知,ALD 具有明显的表型多态性,这与异常基因的渗透性和表达差异有关。对该患者进行了检查,以寻找与痉挛性截瘫和具有类似表型表现的遗传性疾病相关的致病基因突变(神经退行性疾病面板,包括对 723 个基因的分析)。没有发现符合搜索标准的重大变化。然而,不存在与 ALD 相关的点突变并不能排除这一诊断,但需要通过对 ABCD1 基因进行测序来排除染色体重排。该患者没有进行这项研究,因此导致误诊。尽管目前的临床指南允许在不进行基因确认的情况下诊断 ALD,但由于 ALD 的 "面具 "多种多样,而且这种疾病经常得不到及时诊断,因此最好对 ABCD1 基因进行测序。为了纠正肾上腺功能不全,患者接受了氢化可的松激素替代疗法(HRT),这消除了皮质功能减退的主要临床表现和部分实验室迹象。然而,促肾上腺皮质激素水平显示,激素替代疗法效果不佳,继发性促肾上腺皮质激素瘤生长的风险增加。然而,过去五年来,患者一直在接受 GABA 激动剂巴氯芬的鞘内治疗。文献尚未描述原发性皮质功能减退症患者鞘内注射巴氯芬后应激激素的反应。现有的少量数据表明,GABA 激动剂可能会对下丘脑-垂体功能产生多向作用;因此,很难确定这种作用对该患者促肾上腺皮质激素分泌的影响。
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X-linked adrenoleukodystrophy: a case report
In this article, we described а clinical case of a 32-year-old patient with late diagnosis of adrenomyeloneuropathy manifested with gradually increasing neurologic symptoms, mistakenly considered as hereditary spastic paraparesis, later joined by adrenal insufficiency. It is known that ALD is characterized by a pronounced phenotypic polymorphism, which is associated with differences in penetrance and expression of the abnormal gene. The patient was examined for pathogenic mutations associated with spastic paraplegia and hereditary diseases with similar phenotypic manifestations (Neurodegenerative Diseases panel including analysis of 723 genes). No significant changes meeting the search criteria were found. However, the absence of point mutations associated with ALD does not exclude this diagnosis, but requires the exclusion of chromosomal rearrangements by sequencing the ABCD1 gene. This study was not performed on the patient, which subsequently led to the misdiagnosis. Despite the fact that current clinical guidelines allow the diagnosis of ALD without genetic confirmation, due to the variety of ALD “masks” and frequent untimely diagnosis of this disease, sequencing of the ABCD1 gene is advisable. In order to correct adrenal insufficiency, the patient was prescribed hormone replacement therapy (HRT) with hydrocortisone, which eliminated the main clinical manifestations and partially laboratory signs of hypocorticism. However, corticotropin levels indicated inadequacy of HRT and increased risk of secondary corticotropinoma growth. However, the patient has been receiving intrathecal therapy with the GABA agonist baclofen for the past five years. The literature has not yet described the response of stress hormones to intrathecal administration of baclofen in patients with primary hypocorticism. The few data available indicate that GABA agonists may have a multidirectional effect on hypothalamic-pituitary function; therefore, it is difficult to determine the contribution of this effect on corticotropin secretion in this patient.
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