自身免疫性多内分泌腺综合征研究进展

自身免疫性多内分泌腺综合征(APS)是指个体在一生中同时或先后发生2种以上自身免疫性内分泌腺病和非内分泌腺病的一组疾病群。根据发病机制不同,其主要分为两种亚型,APS-Ⅰ与自身免疫调节基因(AIRE)突变有关,而人类白细胞抗原和非人类白细胞抗原的多态性可能参与了APS-Ⅱ的发病机制。通过对该疾病的认识,有助于内分泌医生早期诊断该疾病,提高确诊率。     

自身免疫性多内分泌腺病综合征Ⅱ型1例报告

1病例患者,女,21岁,因“反复怕热、心悸六年,口干一周,发热两天”人院。患者六年前曾因怕热、多汗、心悸就诊于我院,诊断为“甲状腺功能亢进症”,予“甲巯咪唑”等正规抗甲亢治疗两年后复查甲功正常,后自行停药,未再复诊。人院一周前出现口干、多饮、多尿,体重下降,     

支气管淀粉样变1例并文献复习

正病例资料患者:王某某,男,60岁,因"咳嗽9年,左侧胸痛1月,咯血5小时"入院。既往有高血压、糖尿病病史。入院查体:T37.3℃,P 101次/min,R 22次/min BP 147/86 mmH g胸廓对称呈桶状,肋间隙正常,双侧呼吸动度一致,双肺呼吸音稍低,左肺可闻及少量管状呼吸音,未闻及明显干湿啰音。心率101次/min,律齐,无杂音。腹部(-),双下肢无水肿。     

自身免疫性多内分泌腺病综合征研究进展

自身免疫性多内分泌腺病综合征为一类少见的由多个系统免疫损伤引起的临床疾病,主要有三种分型：自身免疫性多内分泌腺病综合征1型（APS-1）、自身免疫性多内分泌腺病综合征2型（APS-2）以及X连锁免疫调节、多内分泌疾病和肠病（IPEX）。免疫与遗传机制均参与了疾病的发生与发展。本文对该类疾病发病机制及治疗的新进展进行综述。     

自身免疫性多内分泌腺病综合征研究进展

自身免疫性多内分泌腺病综合征(APS)是指一组包括内分泌与非内分泌器官自身免疫病的综合征,其免疫学特征与其临床表现多样性密切相关(见表1)。现根据国内外文献的最新近展对本病做一简要综述。     

胰岛素自身免疫综合征三例并文献复习

胰岛素自身免疫综合征（insulin autoimmune syndrome，IAS）是引起低血糖的重要原因之一。自上个世纪70年代Hirata首先报道以来，近30余年来临床报道逐渐增多。正确认识IAS有助于低血糖的早期诊断和恰当处理。本研究在报道北京协和医院诊断的3例IAS的基础上，综合分析我国目前已经报道的37例IAS的临床资料，并与日本的IAS资料比较，提出中国人群IAS的临床特点，供临床参考。     

自身免疫性坏死性肌病伴干燥综合征1例报告并文献复习

目的:提高对自身免疫性坏死性肌病伴干燥综合征的临床诊断和发病机制的认识。方法:对1例自身免疫性坏死性肌病伴干燥综合征患者的临床资料进行整理和分析,并复习相关文献。结果:自身免疫性坏死性肌病伴干燥综合征较少见,通过肌肉活检、唾液腺或唇腺活检可以增加诊断的准确性,经糖皮质激素、免疫抑制剂、辅酶Q等治疗后病情好转。结论:自身免疫性坏死性肌病伴干燥综合征患者早期起病隐匿,易被误诊、漏诊,临床上应重视早期发现、早期诊断。     

自身免疫性胰腺炎一例并文献复习

自身免疫性胰腺炎（autoimmune pancreatitis,AIP）是一种由自身免疫机制介导的,以淋巴、浆细胞浸润伴有胰腺纤维化及功能障碍为特征的特殊的慢性胰腺炎,可累及胆管、胆囊、涎腺、肺、肾等胰外器官。因其临床表现与胰腺癌相似,常被误诊为胰腺癌而行不必要的手术。本文介绍我科收治的AIP一例,并结合文献共同复习AIP的临床特征、诊断及治疗。     

自身免疫性多内分泌腺病综合征Ⅰ型1例

本文报道1例特发性甲状旁腺功能减退症(idiopathic hypoparathyroidism,IHP)并发桥本甲状腺炎的自身免疫性多内分泌腺病综合征(autoimmune polyendocrinopathy syndrome,APS)Ⅰ型。患者为22岁女性,情绪悲观2年,反复四肢强直性痉挛1年半,长期服用抗抑郁药物和抗癫痫药物治疗效果差,实验室检查发现低钙血症、高磷血症,甲状腺自身抗体阳性、甲状腺素、甲状旁腺素水平降低,血清肌酶水平明显升高,给予钙剂、维生素D制剂、左甲状腺素钠治疗后,随血钙上升,血磷、肌酶恢复正常,情绪好转,停用抗癫痫药物后无肢体抽搐,同时对相关文献进行复习和总结。     

自身免疫性多内分泌腺病综合征Ⅰ型

自身免疫性多内分泌腺病综合征 (APS)是指由自身免疫引起的多内分泌腺功能受损为主要表现的系列综合征 ,APSⅠ型指Addison病、甲状旁腺功能减退和慢性粘膜皮肤念珠菌病三者中至少存在两个。本病罕见 ,目前认为是唯一与人白细胞抗原 (HLA)无关的自身免疫性疾病 ,以常染色体隐性方式遗传 ,由位于 2 1q2 2 .3的自身免疫调节子 (AIRE)基因突变引起。本文从流行病学、分子遗传学、临床特征及预后几方面对APSⅠ进行了总结。     

非典型Marine-Lenhart综合征2例报道并文献复习

Graves病是由促甲状腺激素(TSH)受体抗体(TRAb)引起的甲状腺功能亢进症(甲亢)[1].Graves病患者中大约有10％ ～ 31％合并有甲状腺结节,其中绝大部分结节(＞95％)为无功能性,仅少部分表现为功能性结节[24].Graves病合并功能性结节并引起甲亢被称为Marine-Lenhart综合征[5-7].典型Marine-Lenhart综合征的甲状腺结节为TSH依赖性,即TSH水平升高时结节呈现功能,而非典型Marine-Lenhart综合征的结节则是非TSH依赖性的[5,8-10].目前,国内仅报道1例典型Marine-Lenhart综合征[11].现就本院的2例非典型Marine-Lenhart综合征进行报道.     

Autoimmune polyendocrine syndrome type 1: case report and review of literature

Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome.     

成人孤立性ACTH缺乏症3例报道并文献复习

孤立性促肾上腺皮质激素(ACTH)缺乏症(IAD)是一种罕见疾病,其临床特点是继发性肾上腺皮质功能减退症,低或无皮质醇产生,除了ACTH水平降低,垂体其他激素分泌正常或短暂的可逆性异常,没有其他结构性垂体缺陷,并排除外源性糖皮质激素应用以及垂体瘤术后所致的ACTH缺乏[1].现就江苏省中西医结合医院内分泌科2016年以来收治的3例IAD患者进行报道,同时对该病的诊治进行文献复习.     

原发性骨恶性淋巴瘤4例临床分析并文献复习

目的：探讨原发性骨恶性淋巴瘤(PBL)的特点、治疗及预后。方法：4例PBL均经手术取活检，病理明确诊断，给予放、化疗治疗。结果：4例患者对化疗和放疗敏感，达到完全缓解。结论：PBL多为B细胞性非霍奇金淋巴瘤，可侵犯骨的任何部位，治疗主要是化疗结合局部放疗，是一种预后较好、有可能被治愈的疾病。     

Autoimmune cytopenias in pernicious anemia: a report of four cases and review of the literature

Pernicious anemia appears to be autoimmune in origin and is associated with immune disorders of several organ systems. We report 4 patients with pernicious anemia and immune cytopenias, an association that may sometimes pose diagnostic problems unless specifically considered. Pernicious anemia coexisted with or was closely followed by idiopathic thrombocytopenic purpura in 3 patients and by autoimmune hemolytic anemia in a 4th patient. In addition to cobalamin therapy, all patients required corticosteroids (2 also received danazol), while 1 also required splenectomy. All 4 patients were women. The 3 patients with idiopathic thrombocytopenic purpura were also blood group O and were iron-deficient. Autoimmune cytopenias may occur in patients with treated or untreated pernicious anemia and require specific therapy.     

以糖尿病为首发表现的自身免疫性胰腺炎1例并文献复习

自身免疫性胰腺炎(AIP)是一类与自身免疫相关的特殊类型的慢性胰腺炎.AIP的发病率较低,既往相关的报道较少.近年来,随着临床对其认识的加深,病例报道有所增多.广州医科大学附属第二医院内分泌科收治1例以糖尿病为主要首发表现的AIP患者,现报道如下. 1病例介绍 患者男性,65岁,因“多尿、多饮、消瘦1月余”于2012年3月于广州医科大学附属第二医院内分泌科门诊就诊.患者1个多月前无明显诱因出现多尿、多饮、消瘦,体重下降约7 kg,伴进餐后上腹隐痛,可自行缓解,无恶心、呕吐,无黄染,无腹泻、便血等.     

Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease occurring in childhood. Recently, it has been shown that heritable mutations in Fas or Fas ligand genes, which regulate lymphocyte survival by triggering apoptosis of lymphocytes, are the most frequent cause of ALPS. Patients with ALPS frequently have lymphadenopathy, splenomegaly and hepatomegaly, especially at young ages. A positive result of the Direct Coomb's test, autoimmune hemolytic anemia, and idiopathic thrombocytopenic purpura are the most common features of autoimmunity in patients with ALPS. Elevated numbers and percentages (>1%) of double-negative (CD4-CD8-) T cells, and characteristic pathologic findings in lymph nodes or spleen are other important diagnostic features. In this report, we present the clinical, immunologic, and pathologic features of two children who were diagnosed with ALPS. The early recognition of ALPS in children with enlarged lymph nodes, hepatosplenomegaly, and autoimmune hematologic features has important diagnostic and prognostic value in avoiding expensive and time-consuming studies and unnecessary treatments. The ratio of CD4-CD8- T cells, immunoglobulin levels and the histopathologic features of lymph nodes should be rapidly determined in these patients in order to establish an early diagnosis and treatment.     

以低血糖昏迷就诊的多发性内分泌腺瘤1型四例并文献复习

目的 探讨以低血糖昏迷就诊的多发性内分泌腺瘤1型(MENI型)的临床特点及诊治经验.方法 对因复低血糖昏迷住院、经内分泌激素和影像检查及手术确诊为MEN1型的4例患者临床资料进行分析.结果 (1)4例患者均具备Whipple三联征,影像榆查显示胰腺内占位性病变,手术病理证实为胰岛素瘤,其中2例为多发性.(2)1例合并垂体瘤、甲状旁腺瘤(术后复发)和肾上腺皮质腺瘤,1例合并垂体瘤、甲状旁腺瘤(2个)和肾卜腺结节增生,1例合并垂体瘤和甲状旁腺瘤,另1例合并垂体瘤及可疑甲状旁腺瘤.结论 (1)对于胰岛素瘤患者,应仔细检查是否存在MENl型.(2)对于MEN1型患者,手术时应关注甲状旁腺瘤(或增生)和胰岛素瘤是否为多发及异位等情况.术后应定期随访以监测病变的复发和新病变发生.     

Autoimmune polyendocrine syndrome with atrial septal defect

Atrial septal defect is frequently reported with genetic syndromes. But, to the best of our knowledge, it has not been reported with autoimmune polyendocrine syndrome. Here, the case of a 44-year-old-woman with concomitant involvement of the salivary gland, thyroid, intestines, and, possibly endocrine pancreas, diagnosed with autoimmune polyendocrine syndrome type II, is reported with accompanying atrial septal defect. Celiac disease, Hashimoto thyroiditis, and Sjögren syndrome were symptomatic and laboratory confirmed diagnosis; anti–glutamic acid decarboxylase antibody was positive but asymptomatic for type-1 diabetes. She was known to have sinus venosus type atrial septal defect diagnosed at 38 years old, when she had tiredness and chest pain.