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Turner综合征患者除了典型的身材矮小、性腺发育不良等临床表现外,还有发生自身免疫疾病及产生自身免疫抗体的倾向.本文报道1例Turner综合征合并1型糖尿病、桥本甲状腺炎的病例,除了使用胰岛素替代治疗外,根据病例特点使用了人源化抗CD20单克隆抗体行免疫治疗,治疗后患者胰岛功能好转,有效减缓了免疫损害导致的胰岛功能迅速衰竭.总结该病例及相关文献,我们推测Turner综合征患者发生自身免疫性疾病的风险高于正常人群,该类患者在临床诊治过程中,除了身材矮小、性腺发育不良等缺陷,尚需关注其他自身免疫性内分泌疾病的发病风险.对于Turner综合征患者需长期随访,监测自身免疫相关抗体,早期干预,以防止不可逆转的自身免疫性破坏. 相似文献
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报告1例儿童1型糖尿病合并肺毛霉病的临床表现及诊治情况,并复习文献,总结诊治经验.患儿为14岁女孩,新发1型糖尿病合并酮症酸中毒,并发毛霉菌肺炎.临床过程凶险、肺部病变快速进展,糖尿病控制差,入院2周起予两性霉素B脂质体治疗反应差,支气管灌洗无效,未及手术而于住院第51天大咯血死亡.复习文献,毛霉病多发生于血糖控制不良的2型成人糖尿病患者,儿童新发1型糖尿病并发毛霉菌肺炎少见.目前国际上推荐糖尿病合并肺毛霉病的治疗方案为:早期诊断,积极治疗原发病,尽早应用两性霉素B脂质体及尽早外科手术清创并切除受累的肺叶. 相似文献
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目的研究支气管肺泡灌洗液(BALF)中白介素5(IL-5)与支气管上皮细胞转录激活因子和信号转导子1(STAT-1)蛋白表达及其信号转导途径对支气管哮喘(简称哮喘)豚鼠气道炎症的影响。方法豚鼠48只随机分为正常对照组(A组);哮喘组(B组):据不同时间段分为B1组(0h)、B2组(24h)、B3组(72h)、B4组(5d)和地塞米松干预组(C组)。B组与C组采用卵白蛋白(OVA)腹腔注射与雾化吸入诱发豚鼠哮喘发作,A组用0.9%生理盐水代替抗原进行腹腔注射致敏和激发。观察各组豚鼠临床与病理学变化特点,用免疫组织化学测定各组支气管上皮细胞STAT-1的表达,ELISA法测定IL-5的浓度,同时计数BALF中细胞总数和嗜酸粒细胞(EOS)数。结果B组和C组肺组织病理变化为哮喘病理改变特点,气道上皮细胞STAT-1蛋白表达:B1~B4组豚鼠在OVA激发后其分别为(57±9,136±14,95±21,67±30)与A组(13±7)比较差异均有统计学意义(P<0.01);C组(25±7)与B4组(67±30)比较差异有统计学意义(P<0.01);B1~B4组气道上皮细胞STAT-1蛋白表达水平与BALF中EOS和IL-5动态变化呈正相关(r=0.652,P<0.01)和(r=0.699,P<0.05)。结论哮喘存在EOS、T细胞、上皮细胞等炎细胞的聚集、活化及细胞组分的高分泌和气道上皮细胞STAT-1的过度表达与持续活化及其信号转导途径异常,其机制可能与IL-5介导的STAT-1过度表达与持续活化及其信号转导途径和细胞因子紊乱等有关。糖皮质激素可抑制气道上皮细胞STAT-1的表达和上述炎细胞集聚与活化,调控气道炎症的发生、发展和气道重塑。 相似文献
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目的:提高对暴发性1型糖尿病的认识。方法:结合文献分析我科收治1例暴发性1型糖尿病合并转氨酶急剧升高的临床病历资料。结果:起病急骤,病程常<1周,且通常以酮症酸中毒起病,且比1型糖尿病更严重。且肝脏糖脂代谢紊乱严重,通常在1个月内恢复正常。结论:暴发性1型糖尿病起病急骤,代谢紊乱更严重,易合并多脏器功能损害,一经诊断应立即给予积极治疗。 相似文献
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通过分析一例伴有耳聋的糖尿病患者及其家系成员的临床特征和家系基因谱,从临床、生化、基因水平进行文献复习,以明确线粒体基因突变糖尿病及并发症的诊断.先证者体型消瘦、皮肤黝黑,活动耐量减低,胰岛功能进行性下降,血乳酸水平升高,肾小球滤过率正常,尿常规隐血持续阳性,且合并肠息肉,心律失常.该家系多人患有糖尿病,除先证者次兄体健外,先证者及其长兄患有糖尿病,并伴有听力下降;其母亲死于糖尿病并发症,其女听力轻度下降,血糖尚正常.家系中所有听力下降的患者基因测序结果均为线粒体基因(3243A→G)突变.文献复习表明线粒体基因突变糖尿病有多种表型,基因测序有助于最终诊断. 相似文献
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患者,女,29岁.身高160 cm,体重60kg,BMI 23.4 kg/m2,因"停经30+5周,口干,多饮多尿伴发热,胎动减少2天",于2010年5月2日入院.入院前2天因受凉感冒开始发热,同时出现口干,多饮及多尿,自觉胎动减少.既往无糖尿病及糖尿病家族史.孕28周行50 g糖筛查试验示1小时血糖7.6mmol/L.入院检查:口服葡萄糖耐量试验空腹4.4 mmol/L、1小时8.3 mmol/L、2小时6.5 mmol/L、3小时5.6 mmol/L.生育史:孕2产0.入院体格检查:体温36.5℃,脉搏115次/分,呼吸28次/分,血压100/55 mm Hg,神志清楚,脱水貌,心、肺无异常,剑突下轻压痛,无反跳痛,病理反射未引出. 相似文献
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胰岛素启动子因子 1(IPF 1)是葡萄糖依赖的胰岛素基因转录调控因子 ,IPF 1基因突变可使其活性下降 ,β细胞功能缺陷 ,并与葡萄糖毒性作用有关。IPF 1基因 6 3位脯氨酸密码子缺失C为年轻的成年发病型糖尿病(MODY) 4的遗传学病因 ,而另一些突变 ,如D76N、C18R、Q5 9L、R197H、G2 12R、P2 39Q及INSCCG2 4 3则与 2型糖尿病关联 ,功能测试显示这些突变体在血糖升高时刺激β细胞合成、分泌胰岛素的功能受损 ,且携带者对 2型糖尿病易感。 相似文献
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暴发性1 型糖尿病(fulminant type 1 diabetes,FT1DM)是21世纪以来发现的一种1型糖尿病的新亚型,其特征是起病突然,高血糖症状持续很短时间(<1周)内即出现酮症或酮症酸中毒,糖尿病相关自身抗体呈阴性,发病时几乎没有C肽分泌[1].本病发病急且重,代谢紊乱严重,容易合并多器官损害,且缺乏特异... 相似文献
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Dinato SL Costa GL Dinato MC Sementilli A Romiti N 《Arquivos brasileiros de endocrinologia e metabologia》2010,54(9):852-855
Scleredema of Buschke (SB) is a rare disorder of connective tissue, characterized by hardening of the skin. Of unknown etiology, it may be associated with viral or bacterial infections, hematological alterations and diabetes mellitus (DM). In half of the reported cases of SB, there is association with DM. The most common characteristics among these patients are: being male adults, having long-term DM, bad metabolic control and presence of specific complications of DM. The histopathological examination shows dermal thickening, with widened collagen fibers separated by non-colored spots, which correspond to mucopolysaccharides deposits. The clinical consequences are: decrease in motility of the shoulders and an impairment of respiratory function. Several treatments are suggested in the literature, but with inconstant results. A case of SB is reported in a type 2 diabetes patient. 相似文献
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Salman Rida Barakat Andrew Berjawi Ghina 《International journal of diabetes in developing countries.》2019,39(1):228-231
International Journal of Diabetes in Developing Countries - Dorsal pancreatic agenesis is a rare congenital anomaly that may be associated with recurrent bouts of pancreatitis and diabetes... 相似文献
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慢性乙型肝炎持续感染的免疫机制与T淋巴细胞密切相关,T淋巴细胞的发育需要多种细胞因子的协调作用,而信号转导及转录激活因子家族蛋白主要参与细胞因子的信号转导,尤其是STAT5a/b和STAT3在调节性T淋巴细胞(Treg)和辅助性T淋巴细胞17(Th17)的分化、发育过程中有着重要作用。本文主要就在慢性乙型肝炎中,对信号转导及转录激活因子3、5与Treg/Th17平衡的关系进行分析,研究HBV感染的慢性化及其引起的肝脏炎症调控机制。 相似文献
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This is a case report regarding a 45-year-old woman, who has been undergoing treatment for diabetes mellitus (DM) with chronic
thyroiditis (euthyroid state). The patient was admitted to our hospital for the evaluation of a right adrenal tumor (50 × 45 mm)
and episodic hypertension. She was diagnosed as having pheochromocytoma based on the increased catecholamine and metabolite
concentrations and the result of iodine-131 metaiodobenzyl guanidine (131I-MIBG) scintigraphy. Subsequently, the right adrenal tumor was excised. Slowly, progressive type 1 DM (SPIDDM) was confirmed
by seropositivity to anti-glutamic acid decarboxylase (1890 U/ml) and the clinical course. After right adrenalectomy, the
elevated catecholamine and metabolite concentrations and blood pressure retuned to normal, and the dosage of insulin injection
was reduced. However, she still needed the insulin injection therapy to control her blood glucose level. This case exhibited
an extremely rare combination of pheochromocytoma and SPIDDM with chronic thyroiditis. Although it is common for patients
with pheochromocytoma to exhibit glucose intolerance, this case raises the suggestion that measuring the levels of the autoantibody
for pancreatic islet cells should be considered if SPIDDM is suspected in a patient with pheochromocytoma. 相似文献
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Inagaki T Nishii Y Suzuki N Suzuki S Koizumi Y Aizawa T Hashizume K 《Endocrine journal》2002,49(3):319-322
We report two cases of type 1 diabetes mellitus fulminantly developed as diabetic ketoacidosis (DKA) at 19 weeks of gestation and immediately after delivery. Development of type 1 diabetes around pregnancy is not rare, but its fulminant development is highly uncommon. We also review the relevant literature concerning mostly Japanese cases. In our cases, the group of patients with fulminant progressive diabetes mellitus associated with pregnancy required insulin replacement therapy even after the acute period and showed high value of pancreatic exocrine enzymes, i.e. amylase, elastase, and lipase. The phenotype of this group was similar to "nonautoimmune, fulminant type 1 diabetes" described by Imagawa et al., where the laboratory data of type 1 diabetes-related autoantibodies showed negative. It is well known that autoimmune diseases are in good control during pregnancy. Our present finding suggests that this type of fulminant type 1 diabetes mellitus associated with pregnancy might develop as a consequence of a nonautoimmune mechanism. 相似文献