X-连锁肾上腺脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)是一种编码过氧化物酶体跨膜蛋白三磷酸腺苷结合盒亚家族D成员1(adenosine 5′-triphosphate binding cassette subfamily D member 1,ABCD1)基因突变的遗传病,其具有...X-连锁肾上腺脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)是一种编码过氧化物酶体跨膜蛋白三磷酸腺苷结合盒亚家族D成员1(adenosine 5′-triphosphate binding cassette subfamily D member 1,ABCD1)基因突变的遗传病,其具有多种临床表现,从首发症状到致死性炎性脱髓鞘的进展过程极其快速。因此,识别早期临床症状,早诊断、早治疗能有效阻止该疾病进展。本研究报道1例少见的以“皮肤色素沉着3年”为唯一临床表型的X-ALD患者的实验室检查及影像学特点,并采用高通量测序为患者及其父母进行ABCD1基因测序。实验室检查结果提示患者肾上腺皮质功能减退,血清极长链脂肪酸浓度增高;肾上腺及脑MRI显示未见明显异常信号影。患者基因检测结果显示ABCD1基因外显子1发生c.521A>C半合子突变,其母亲为同位点杂合突变,故诊断为“X-连锁肾上腺脑白质营养不良”。随访过程中,患者肾上腺皮质功能不全症状没有改善,颅脑MRI显示右侧放射冠、左侧顶叶脑白质见少许点状高flair信号影,提示可能出现脑损伤。仅有皮肤表现而无神经系统异常的X-ALD患者极易被忽视,早期诊断并给予早期干预是延缓该疾病进展的重要途径。因此,建议所有的男性儿童患者以皮肤色素沉着为唯一临床表现,继而诊断肾上腺皮质功能减退时,都应该进行基因检测,及早鉴别X-ALD。展开更多
A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genoty...A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genotype was overrepresented in a subgroup of 15 patients with adrenomyeloneuropathy (AMN) with CNS demyelination (adrenoleukomyeloneuropathy) in comparison to 49 AMN patients without CNS demyelination (“pure”AMN; p = 0.002), suggesting that methionine metabolism might contribute to the phenotypic variability in adrenoleukodystrophy.展开更多
文摘X-连锁肾上腺脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)是一种编码过氧化物酶体跨膜蛋白三磷酸腺苷结合盒亚家族D成员1(adenosine 5′-triphosphate binding cassette subfamily D member 1,ABCD1)基因突变的遗传病,其具有多种临床表现,从首发症状到致死性炎性脱髓鞘的进展过程极其快速。因此,识别早期临床症状,早诊断、早治疗能有效阻止该疾病进展。本研究报道1例少见的以“皮肤色素沉着3年”为唯一临床表型的X-ALD患者的实验室检查及影像学特点,并采用高通量测序为患者及其父母进行ABCD1基因测序。实验室检查结果提示患者肾上腺皮质功能减退,血清极长链脂肪酸浓度增高;肾上腺及脑MRI显示未见明显异常信号影。患者基因检测结果显示ABCD1基因外显子1发生c.521A>C半合子突变,其母亲为同位点杂合突变,故诊断为“X-连锁肾上腺脑白质营养不良”。随访过程中,患者肾上腺皮质功能不全症状没有改善,颅脑MRI显示右侧放射冠、左侧顶叶脑白质见少许点状高flair信号影,提示可能出现脑损伤。仅有皮肤表现而无神经系统异常的X-ALD患者极易被忽视,早期诊断并给予早期干预是延缓该疾病进展的重要途径。因此,建议所有的男性儿童患者以皮肤色素沉着为唯一临床表现,继而诊断肾上腺皮质功能减退时,都应该进行基因检测,及早鉴别X-ALD。
文摘A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genotype was overrepresented in a subgroup of 15 patients with adrenomyeloneuropathy (AMN) with CNS demyelination (adrenoleukomyeloneuropathy) in comparison to 49 AMN patients without CNS demyelination (“pure”AMN; p = 0.002), suggesting that methionine metabolism might contribute to the phenotypic variability in adrenoleukodystrophy.
