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中华内分泌代谢杂志最新文献

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Shared decision making for elective abdominal aortic aneurysm surgery. 腹主动脉瘤择期手术的共同决策。
IF 4.4 Q4 Medicine Pub Date : 2019-11-01 DOI: 10.7861/clinmed.2019-0352
Michael Swart, Robert McCarthy

Decisions on how and when to treat an abdominal aortic aneurysm involve a number of clinicians; interventional radiologists and vascular surgeons assess the technical ability to repair the aneurysm. Patients' fitness and past medical history is assessed to estimate their short- and long-term survival with or without surgery. Most importantly the patients' personal preference for treatment must be identified. Getting a patient to share what matters most to them requires shared decision making.

决定如何以及何时治疗腹主动脉瘤需要多位临床医生的参与;介入放射科医生和血管外科医生会评估修复动脉瘤的技术能力。对患者的健康状况和既往病史进行评估,以估算他们接受或不接受手术的短期和长期存活率。最重要的是,必须确定患者对治疗的个人偏好。让患者分享对他们来说最重要的事情需要共同决策。
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引用次数: 0
Mild sustained physiological hyperglycemia impairs hepatic insulin sensitivity in healthy individuals with normal glucose tolerance 在葡萄糖耐量正常的健康个体中,轻度持续性生理性高血糖损害肝脏胰岛素敏感性
Q4 Medicine Pub Date : 2019-10-25 DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.10.017
Yichao Wei, Yu Hu
Previous studies have shown that chronic hyperglycemia exacerbates skeletal muscle insulin resistance and worsens β-cell function. However, the effect of sustained physiologic hyperglycemia on hepatic insulin sensitivity stays unclear. This paper is the Chinese translation of " Mild physiologic hyperglycemia induces hepatic insulin resistance in healthy normal glucose-tolerant participants" , published on " Journal of Clinical Endocrinology & Metabolism" [Tripathy D, Merovci A, Basu R, et al. J Clin Endocrinol Metab, 2019, 104(7): 2842-2850] after obtaining the copyright of the original journal. This study examined the effect of sustained physiologic hyperglycemia on endogenous glucose production(EGP) in 16 healthy individuals with three-step hyperinsulinemic euglycemic clamp. The results showed that sustained physiologic hyperglycemia for only 48 hours increased the rate of basal hepatic glucose production and induced hepatic insulin resistance in healthy persons with normal glucose tolerance, indicating the role of glucotoxicity in the increase of hepatic glucose production in type 2 diabetes. Key words: Hyperglycemia; Insulin resistance; Normal glucose tolerance
先前的研究表明,慢性高血糖会加剧骨骼肌胰岛素抵抗,并恶化β细胞功能。然而,持续的生理性高血糖对肝脏胰岛素敏感性的影响尚不清楚。本文是“轻度生理性高血糖诱导健康正常耐糖参与者肝胰岛素抵抗”的中文翻译,在获得原刊版权后发表在《临床内分泌学与代谢杂志》[Tropathy D,Merovci A,Basu R,et al.J Clin Endocrinol Metab,2019104(7):2842-2850]上。本研究用三步高胰岛素-正常血糖钳夹检测了16名健康人持续生理性高血糖对内源性葡萄糖生成(EGP)的影响。结果表明,在糖耐量正常的健康人中,持续48小时的生理性高血糖增加了基础肝葡萄糖产生率,并诱导了肝胰岛素抵抗,这表明糖毒性在2型糖尿病肝葡萄糖产生增加中的作用。关键词:高血糖;胰岛素抵抗;正常葡萄糖耐量
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引用次数: 0
Treatment options for patients with recurrent Graves hyperthyroidism after anti-thyroid drug treatment 复发性Graves甲亢患者抗甲状腺药物治疗后的治疗选择
Q4 Medicine Pub Date : 2019-10-25 DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.10.019
Meng Liu, Jia Liu, Guang Wang
Graves′ disease (GD) is the most common cause of hyperthyroidism, and its treatment includes anti-thyroid drugs (ATD), radioactive iodine therapy (RAI), and surgical treatment. ATD is the first choice for GD treatment in China, but the high recurrence rate limits its widely clinical application. The therapeutic strategy for patients with recurrent hyperthyroidism after ATD treatment is still controversial. Key words: Hyperthyroidism; Graves′ disease; Anti-thyroid drugs; Recurrence
Graves病(GD)是甲状腺功能亢进症最常见的病因,其治疗包括抗甲状腺药物(ATD)、放射性碘治疗(RAI)和手术治疗。ATD是国内治疗GD的首选药物,但复发率高限制了其广泛的临床应用。ATD治疗后复发性甲状腺功能亢进患者的治疗策略仍然存在争议。关键词:甲状腺功能亢进;Graves病;抗甲状腺药物;重复
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引用次数: 0
Approach to the patient with pancytopenia secondary to panhypopituitarism after craniopharyngioma surgery 颅咽管瘤术后全垂体功能减退伴全血细胞减少症的探讨
Q4 Medicine Pub Date : 2019-10-25 DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.10.013
Xiaoyang Shi, Kai Zhang, Yanfang Wang, S. Ma, Junpeng Yang, Lu Yu, Zhigang Zhao, Huijuan Yuan
Craniopharyngioma is the most common benign intracranial tumor in children. The major post-operative complication is dysfunction of pituitary, which can result in many complicate clinical manifestations with hormonal deficiencies. Normochromic anemia has been reported as a common hematologic abnormality. However, pancytopenia is rarely reported so far. Here we described a 21-year-old inpatient with the main complaint of nasal bleeding, who received craniopharyngioma surgery 9 years ago. Laboratory tests showed pancytopenia secondary to panhypopituitarism. This paper aims to increase the awareness of this disease and accumulate clinical experiences for the clinicians. Key words: Craniopharyngioma; Hypopituitarism; Pancytopenia
颅咽管瘤是儿童最常见的颅内良性肿瘤。主要的术后并发症是垂体功能障碍,可导致许多复杂的临床表现,并伴有激素缺乏。同色性贫血是一种常见的血液学异常。然而,迄今为止,全血细胞减少症的报道很少。我们在此报告一位21岁的住院病人,主诉为鼻出血,9年前接受颅咽管瘤手术。实验室检查显示全血细胞减少症继发于全垂体功能减退症。本文旨在提高临床医师对本病的认识,积累临床经验。关键词:颅咽管瘤;垂体机能减退;全血细胞减少症
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引用次数: 0
Relationship between serum CTRP6 level and insulin resistance in patients with newly diagnosed type 2 diabetes mellitus 新诊断2型糖尿病患者血清CTRP6水平与胰岛素抵抗的关系
Q4 Medicine Pub Date : 2019-10-25 DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.10.006
Jiaoyang Li, Min Liu, Xiaoyan Qi, Ya-Di Wang, Li Ran, Tao Hong, Jing Yang, Gebo Wen, Jianghua Liu, Xinhua Xiao
Objective To explore the relationship between serum C1q and tumor necrosis factor related protein 6(CTRP6) level and insulin resistance in patients with newly diagnosed type 2 diabetes mellitus (T2DM). Methods A total of 167 patients with newly diagnosed T2DM in the outpatient department of our hospital were recruited from April 2016 to March 2017 and 165 subjects with normal glucose tolerance were used as the control group. The concentrations of CTRP6, interleukin 6 (IL-6), monocyte chemoattractant protein-1 (MCP-1), and tumor necrosis factor α (TNF-α) were determined by ELISA. Results Circulating CTRP6 level was significantly higher in T2DM group than that in control group [(652.54±132.57) vs (521.28±119.93)μg/L, P<0.01] after adjusting age and body mass index (BMI). Overweight/obese subjects revealed higher CTRP6 levels compared with those in lean individuals. In addition, circulating CTRP6 level was positively correlated with BMI, waist circumference, fasting plasma glucose, postprandial 2h plasma glucose, HbA1C, fasting insulin, homeostasis model assessment insulin resistance index (HOMA-IR), triglyceride (TG), IL-6, MCP-1, highly sensitive C-reactive protein (hs-CRP), and TNF-α, while it was inversely correlated with high-density lipoprotein-cholesterol(P<0.01). Multivariate linear regression analysis showed that TG, HOMA-IR, and IL-6 were independent factors for CTRP6 level. After adjusting for potential confounders, CTRP6 remained an independent risk factor for T2DM. Trend test showed that the increase in CTRP6 level was significantly linear with the occurrence of T2DM. The analysis of receiver operating characteristic curves revealed that the area under the curve for circulating CTRP6 to predict T2DM was 0.730. Conclusions CTRP6 may be associated with insulin resistance. Key words: C1q/TNF-related protein-6; Diabetes mellitus, type 2; Inflammation; Insulin resistance
目的探讨新诊断2型糖尿病(T2DM)患者血清C1q、肿瘤坏死因子相关蛋白6(CTRP6)水平与胰岛素抵抗的关系。方法选取2016年4月至2017年3月在我院门诊就诊的新诊断T2DM患者167例,以糖耐量正常的165例为对照组。ELISA法检测各组小鼠CTRP6、白细胞介素6 (IL-6)、单核细胞趋化蛋白-1 (MCP-1)、肿瘤坏死因子α (TNF-α)的浓度。结果调整年龄和体重指数(BMI)后,T2DM组循环CTRP6水平明显高于对照组[(652.54±132.57)vs(521.28±119.93)μg/L, P<0.01]。超重/肥胖受试者的CTRP6水平高于瘦人。此外,循环CTRP6水平与BMI、腰围、空腹血糖、餐后2h血糖、HbA1C、空腹胰岛素、稳态模型评估胰岛素抵抗指数(HOMA-IR)、甘油三酯(TG)、IL-6、MCP-1、高敏感c反应蛋白(hs-CRP)、TNF-α呈正相关,与高密度脂蛋白-胆固醇呈负相关(P<0.01)。多元线性回归分析显示TG、HOMA-IR、IL-6是影响CTRP6水平的独立因素。在调整了潜在的混杂因素后,CTRP6仍然是T2DM的独立危险因素。趋势检验显示CTRP6水平的升高与T2DM的发生呈显著的线性关系。受试者工作特征曲线分析显示,循环CTRP6预测T2DM的曲线下面积为0.730。结论CTRP6可能与胰岛素抵抗有关。关键词:C1q/ tnf相关蛋白-6;2型糖尿病;炎症;胰岛素抵抗
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引用次数: 0
Association of insulin resistance and β-cell function with macrosomia among pregnant women with gestational diabetes mellitus 妊娠期糖尿病孕妇胰岛素抵抗和β细胞功能与巨大儿的关系
Q4 Medicine Pub Date : 2019-10-25 DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.10.007
Ming-Wei Zhao, Guanghui Li
Objective To investigate the associations of insulin resistance and β-cell function with macrosomia among pregnant women with gestational diabetes mellitus (GDM). Methods Totally 165 women with GDM were enrolled from January 2017 to June 2017 in the Nutrition Clinic of Beijing Obstetrics and Gynecology Hospitals of Capital Medical University, and they were followed-up until delivery. These GDM women were divided into macrosomia group (birth weight≥4 000 g) and control group (birth weight 2 500-3 999 g) according to their infants′ birth weight. Homeostasis model assessment of insulin resistance (HOMA-IR) and β-cell function (HOMA-β) were estimated. Multivariable logistic regression was conducted to analyze the risk factors of macrosomia. Results Compared to control group, macrosomia group had higher gestational weeks and body mass index (BMI) before pregnancy, gestational weight gain, fasting plasma glucose levels during both 24-28 and 28-32 weeks of gestation, and HOMA-IR. Multivariable logistic regression showed that the risk of macrosomia was associated with BMI before pregnancy (OR=1.41, 95%CI 1.14-1.75, P<0.01), gestational weight gain (OR=1.50, 95%CI 1.26-1.79, P<0.01) and fasting blood glucose during the 28-32 week period of gestation (OR=6.56, 95%CI 1.15-37.27, P<0.05). In addition, BMI before pregnancy was positively correlated to birth weight (r=0.21, P<0.01), HOMA-IR(r=0.46, P<0.01), and HOMA-β(r=0.26, P<0.01). Conclusion Fasting plasma glucose levels during 28-32 weeks of gestation are associated with the risk of giving birth to macrosomia in pregnant women with GDM independent of maternal BMI before pregnancy as well as gestational weight gain. Key words: Gestational diabetes mellitus; Insulin resistance; Islet β-cell function; Macrosomia
目的探讨妊娠期糖尿病(GDM)孕妇胰岛素抵抗和β细胞功能与巨大儿的关系。方法选择首都医科大学北京妇产医院营养门诊2017年1月至2017年6月收治的GDM患者165例,随访至分娩。这些GDM妇女根据其婴儿的出生体重分为巨大儿组(出生体重≥4000g)和对照组(出生重量25000-3999g)。估计稳态模型对胰岛素抵抗(HOMA-IR)和β细胞功能(HOMA-β)的评估。采用多因素logistic回归分析巨大儿的危险因素。结果与对照组相比,巨大儿组妊娠周数和孕前体重指数(BMI)、妊娠体重增加、妊娠24-28周和28-32周的空腹血糖水平以及HOMA-IR均较高。多因素logistic回归显示,巨大儿的风险与孕前BMI(OR=1.41,95%CI 1.14-1.75,P<0.01)、妊娠体重增加(OR=1.50,95%CI 1.26-1.79,P<0.01)和妊娠28-32周期间的空腹血糖(OR=6.56,95%CI 1.11-3.27,P<0.05)有关,孕前BMI与出生体重(r=0.21,P<0.01)、HOMA-IR(r=0.46,P<0.01)和HOMA-β(r=0.26,P<0.01。关键词:妊娠期糖尿病;胰岛素抵抗;胰岛β细胞功能;宏观
{"title":"Association of insulin resistance and β-cell function with macrosomia among pregnant women with gestational diabetes mellitus","authors":"Ming-Wei Zhao, Guanghui Li","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.10.007","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.10.007","url":null,"abstract":"Objective \u0000To investigate the associations of insulin resistance and β-cell function with macrosomia among pregnant women with gestational diabetes mellitus (GDM). \u0000 \u0000 \u0000Methods \u0000Totally 165 women with GDM were enrolled from January 2017 to June 2017 in the Nutrition Clinic of Beijing Obstetrics and Gynecology Hospitals of Capital Medical University, and they were followed-up until delivery. These GDM women were divided into macrosomia group (birth weight≥4 000 g) and control group (birth weight 2 500-3 999 g) according to their infants′ birth weight. Homeostasis model assessment of insulin resistance (HOMA-IR) and β-cell function (HOMA-β) were estimated. Multivariable logistic regression was conducted to analyze the risk factors of macrosomia. \u0000 \u0000 \u0000Results \u0000Compared to control group, macrosomia group had higher gestational weeks and body mass index (BMI) before pregnancy, gestational weight gain, fasting plasma glucose levels during both 24-28 and 28-32 weeks of gestation, and HOMA-IR. Multivariable logistic regression showed that the risk of macrosomia was associated with BMI before pregnancy (OR=1.41, 95%CI 1.14-1.75, P<0.01), gestational weight gain (OR=1.50, 95%CI 1.26-1.79, P<0.01) and fasting blood glucose during the 28-32 week period of gestation (OR=6.56, 95%CI 1.15-37.27, P<0.05). In addition, BMI before pregnancy was positively correlated to birth weight (r=0.21, P<0.01), HOMA-IR(r=0.46, P<0.01), and HOMA-β(r=0.26, P<0.01). \u0000 \u0000 \u0000Conclusion \u0000Fasting plasma glucose levels during 28-32 weeks of gestation are associated with the risk of giving birth to macrosomia in pregnant women with GDM independent of maternal BMI before pregnancy as well as gestational weight gain. \u0000 \u0000 \u0000Key words: \u0000Gestational diabetes mellitus; Insulin resistance; Islet β-cell function; Macrosomia","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"848-852"},"PeriodicalIF":0.0,"publicationDate":"2019-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49035302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Differential expression of long non-coding RNAs in peripheral blood of type 2 diabetic patients 长链非编码rna在2型糖尿病患者外周血中的差异表达
Q4 Medicine Pub Date : 2019-10-25 DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.10.008
Xuan Zhu, Pan Zhang, P. Lou, Yang-guang Du, Ting-jun Liu, C. Qiao, Z. Dong, Peipei Chen, Ting Li
Objective To screen and verify the differential expression profiles of long non-coding RNAs(LncRNAs) in peripheral blood of patients with type 2 diabetes mellitus(T2DM), to identify the potential molecular specific markers of early T2DM. Methods The blood samples of 4 type 2 diabetic patients and 4 normal control subjects were collected for microarray analysis. Then six candidate markers of LncRNAs screened from the differential expression profile were tested by qRT-PCR among the subjects (80 cases in the T2DM group and 50 cases in the control group). The possibility of these LncRNAs as molecular diagnostic markers was analyzed, and finally two of them were carried out by receiver operating characteristic (ROC) analysis. Results Compared with control subjects, there were differentially expressed 133 LncRNAs in type 2 diabetic patients, among which 5 were up-regulated with the maximum up-regulated fold 3.29 and 128 were down-regulated with the maximum down-regulated fold 8.99. Six down-regulated LncRNAs were selected for validation and revealed a similar result to that of microarray.The expressions of two LncRNAs(NONHSAT160746 and NONHSAT140069) in peripheral blood of diabetic patients were significantly lower than those of control subjects (P<0.01). The areas under the ROC curve of the two LncRNAs were 0.734 and 0.703, respectively(P<0.01). Conclusion LncRNAs NONHSAT160746 and LncRNAs NONHSAT140069 are the potential molecular specific markers for the diagnosis of diabetes mellitus. Key words: Diabetes mellitus, type 2; Long non-coding RNAs; Microarray analysis; Biological markers
目的筛选和验证2型糖尿病(T2DM)患者外周血长链非编码rna (LncRNAs)的差异表达谱,寻找早期T2DM的潜在分子特异性标志物。方法采集4例2型糖尿病患者和4例正常对照者的血液样本进行微阵列分析。然后从差异表达谱中筛选6个候选LncRNAs标记物,通过qRT-PCR在受试者(T2DM组80例,对照组50例)中进行检测。分析了这些lncrna作为分子诊断标记的可能性,最后对其中两个lncrna进行了受试者工作特征(receiver operating characteristic, ROC)分析。结果2型糖尿病患者与对照组相比,差异表达133个lncrna,其中上调5个,最大上调倍数为3.29,下调128个,最大下调倍数为8.99。选择6个下调的lncrna进行验证,结果与微阵列相似。两种lncrna (NONHSAT160746和NONHSAT140069)在糖尿病患者外周血中的表达均显著低于对照组(P<0.01)。两种lncrna的ROC曲线下面积分别为0.734、0.703 (P<0.01)。结论LncRNAs NONHSAT160746和LncRNAs NONHSAT140069是诊断糖尿病的潜在分子特异性标志物。关键词:糖尿病;2型;长链非编码rna;微阵列分析;生物标记物
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引用次数: 0
Progress in the study of familial glucocorticoid deficiency 家族性糖皮质激素缺乏的研究进展
Q4 Medicine Pub Date : 2019-10-25 DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.10.016
Ai-Lin Luo, Zhi-fang Wang, Xia-lian Li
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by a single cortisol deficiency and normal aldosterone and renin levels, reported by Shepard et al. in 1959 for the first time. The onset age of FGD may be early or later, from neonatal to adult. The clinical manifestations vary due to the different age at onset. The clinical identification was difficult and would be prone to misdiagnosis because the disease may have many similarities with primary adrenal insufficiency (PAI) caused by other reasons. Key words: Familial glucocorticoid deficiency; Gene mutations
家族性糖皮质激素缺乏症(Familial glucocorticoid deficiency, FGD)是一种罕见的常染色体隐性遗传病,以单一皮质醇缺乏、醛固酮和肾素水平正常为特征,1959年由Shepard等人首次报道。FGD的发病年龄可早或晚,从新生儿到成人。发病年龄不同,临床表现也不同。该病与其他原因引起的原发性肾上腺功能不全(PAI)有许多相似之处,临床鉴定困难,易误诊。关键词:家族性糖皮质激素缺乏症;基因突变
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引用次数: 0
Standardizing the management of fine needle aspiration for thyroid nodules 规范甲状腺结节细针穿刺的管理
Q4 Medicine Pub Date : 2019-10-25 DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.10.001
Xiaoyun Liu, Shu-hang Xu, Hongxun Wu, Y. Zhang, Jiandong Bao, Chao Liu, Tao Yang, Jian Wang
Thyroid nodules are very common in the clinical practice. Fine needle aspiration (FNA) is a major method for the diagnosis of thyroid nodules. This review tried to cover the definition, current status, clinical significance, indications, contraindications, ultrasound evaluation, as well as preparations, steps, molecular diagnosis, cytology diagnosis, and possible pitfalls of this technique. Our purpose is trying to make this procedure universalized and standardized in order to serve more patients by providing clinicians with some helpful references and advices. Key words: Thyroid nodule; Fine needle aspiration; Technique; Standardization
甲状腺结节在临床实践中非常常见。细针抽吸(FNA)是诊断甲状腺结节的主要方法。这篇综述试图涵盖这项技术的定义、现状、临床意义、适应症、禁忌症、超声评估,以及准备工作、步骤、分子诊断、细胞学诊断和可能的陷阱。我们的目的是通过为临床医生提供一些有益的参考和建议,使这一程序普遍化和标准化,以服务于更多的患者。关键词:甲状腺结节;细针抽吸;技术;标准化
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引用次数: 1
Addison disease as presenting manifestation of one patient with adrenoleukodystrophy and identification of a novel ABCD1 gene mutation 一例肾上腺脑白质营养不良患者的Addison病表现及ABCD1基因突变的鉴定
Q4 Medicine Pub Date : 2019-10-25 DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.10.003
Yue Zhou, B. Dong, Xiang Wang, Zhuang Geng, Yajing Huang, Yangang Wang
Objective To identify the clinical manifestations, imaging findings, and genetic mutation characteristics in a rare case of adrenoleukodystrophy(ALD)with adrenocortical dysfunction(Addison′s disease)as the first manifestation. Methods The clinical data of the proband and his family members were comprehensively collected, and ABCDl gene sequencing was meticulously performed for the proband and his mother using high-throughput sequencing method. Results The patient presented with systematical skin pigmentation accompanied by fatigue in early stage, arose stroke-like episodes manifested as a sudden loss of consciousness and incontinence induced by high fever, and followed by progressive unclear speech, unstable walking and worsening vision. Serum very long-chain fatty acid(VLCFA)concentration increased over normal range. The brain MRI showed an abnormal signal of the symmetric distribution of the bilateral corpus callosum. A new c. 874_876del GAG hemizygous variation in the patient′s ABCD1 gene was detected, while his mother had a nucleotide heterozygous variation to this site . Conclusion The diagnosis of ALD requires a combination of clinical manifestations, imaging examination, and serum VLCFA level measurement, while the detection of ABCD1 gene mutations is considered to be the most reliable approach. Key words: Adrenaleukodystrophy; Adrenal insufficiency; Addison disease; ABCD1 gene
目的探讨一例以肾上腺皮质功能障碍(Addison病)为首发表现的罕见肾上腺脑白质营养不良(ALD)的临床表现、影像学表现和基因突变特征。方法综合收集先证者及其家属的临床资料,采用高通量测序方法对先证者及母亲进行ABCD1基因测序。结果患者早期出现系统性皮肤色素沉着并伴有疲劳,出现中风样发作,表现为高烧引起的突然意识丧失和失禁,随后出现进行性言语不清、行走不稳和视力恶化。血清超长链脂肪酸(VLCFA)浓度高于正常范围。脑MRI显示双侧胼胝体对称分布的异常信号。在患者ABCD1基因中检测到一个新的c.874_876del GAG半合子变异,而他的母亲在该位点有一个核苷酸杂合变异。结论ALD的诊断需要结合临床表现、影像学检查和血清VLCFA水平测量,而ABCD1基因突变检测被认为是最可靠的方法。关键词:肾上腺白细胞损伤;肾上腺功能不全;艾迪生病;ABCD1基因
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引用次数: 0
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