重组人生长激素联合雌激素在Turner综合征中的治疗进展

Turner综合征是由X染色体数量和结构异常导致的一种常见性染色体相关疾病,矮身材及性腺发育不良是其最主要的两大临床表现,同时有多器官、组织受累.重组人生长激素(rhGH)和雌激素分别用于改善患者矮身材和性腺发育不良,在临床中应用广泛.近年来研究认为,在儿童早期给予rhGH联合小剂量雌激素可用于Tuner综合征的治疗.     

Turner综合征合并部分性中枢性尿崩症、自身免疫性甲状腺炎1例并文献复习

Turner综合征(TS)又称先天性卵巢发育不良综合征,其表现型为女性,有一个单独X染色体的核型,而第二条性染色体完全或部分缺失致病。临床可表现为身材矮小、第二性征发育不全、原发性闭经、躯体畸形等。本文回顾性分析了贵州医科大学附属医院近期收治的1例TS合并部分性中枢性尿崩症、自身免疫性甲状腺炎患者的临床特点及诊疗经过,结合近年来相关文献,分析合并尿崩症及自身免疫性甲状腺炎的可能机制。     

糖尿病与性腺疾病

糖尿病与性腺内分泌功能密切相关。一方面糖代谢异常会影响下丘脑-垂体-性腺轴功能,导致患者性激素紊乱进而导致性腺功能减退;另一方面性激素分泌异常与糖尿病发病风险相关,常见的性腺功能减退性疾病,如高促性腺激素型性腺功能减退--Klinefelter综合征、Turner综合征等,低促性腺激素型性腺功能减退--Kallmann综合征、Prader Willi综合征等患者糖代谢异常的患病率显著增高。性腺疾病和糖尿病之间相互影响的机制尚不十分确切,可能与胰岛素抵抗、肥胖、染色体基因异常、性激素异常有关。临床上针对性腺疾病合并血糖异常的治疗要个体化     

特纳综合征合并冠心病1例报告并文献复习

<正>特纳综合征(Turner syndrome,TS)又称先天性卵巢发育不全,是由于女性患者细胞中一条X染色体缺失(部分或全部)以及结构异常所致的一种疾病,其发病率在活产女婴中约1/2500,在临床上比较少见。Turner综合征的核型可分为4类,即单一型、嵌合型、X染色体结构异常及含Y染色体核型[1]。其主要特征包括:身材矮小,性腺高度发育不良,第二性征发育较差,原发性的闭经,肘外翻,蹼颈,部分还伴有先     

谷氨酸脱羧酶抗体滴度与成人隐匿性自身免疫糖尿病

成人隐匿性自身免疫糖尿病(LADA)属于缓慢起病的自身免疫性1型糖尿病,谷氨酸脱羧酶抗体(GADAb)阳性对LADA的诊断具有决定性作用。研究发现GAD-Ab滴度可能与LADA患者的细胞免疫、易感基因、临床特征、胰岛功能等相关,因此推断LADA可能存在与GAD-Ab滴度相关的异质性。研究具有不同抗体滴度LADA患者的胰岛病理改变有助于了解β细胞的免疫破坏进程、尝试新的免疫干预措施,从而为1型糖尿病的治疗及预防提供依据。     

谷氨酸脱羧酶抗体滴度与成人隐匿性自身免疫糖尿病

成人隐匿性自身免疫糖尿病(LADA)属于缓慢起病的自身免疫性1型糖尿病，谷氨酸脱羧酶抗体(GAD-Ab)阳性对LADA的诊断具有决定性作用。研究发现GAD-Ab滴度可能与LADA患者的细胞免疫、易感基因、临床特征、胰岛功能等相关，因此推断LADA可能存在与GAD-Ab滴度相关的异质性。研究具有不同抗体滴度LADA患者的胰岛病理改变有助于了解β细胞的免疫破坏进程、尝试新的免疫干预措施，从而为1型糖尿病的治疗及预防提供依据。     

伴特殊临床表现的Turner综合征临床特点分析

目的 探讨临床表现及染色体核型特殊的Turner综合征患者的疾病特点及诊治方法.方法 回顾性分析我院收治的8例伴特殊临床表现的Turner综合征患者的临床资料,并对国内外相关研究进展进行文献复习.结果 Turner综合征女性患者8例,年龄16～23岁,染色体核型分别为45,XO;46,XX,del(Xp);45,X0/46,X,i(Xq);46,X,i(Xq);特殊伴发表现有高血压和主动脉缩窄1例、桥本甲状腺炎1例、亚临床甲状腺功能减退3例、糖耐量受损1例、血脂及肝酶异常3例.结论 Turner综合征患者除有常见的性征发育不良外,可伴有心血管畸形、高血压、糖尿病及甲状腺疾病等特殊表现,易被忽视,需早期筛查及治疗.     

成人隐匿性自身免疫糖尿病患者罗格列酮治疗的三年观察

成人隐匿性自身免疫糖尿病（LADA）胰岛β细胞的免疫损害呈缓慢性，患者在病程早期往往具有一定的残余胰岛β细胞功能，这给干预治疗提供了一定的时机。目前，有学者提出LADA尽早使用胰岛素治疗，但国际上对于LADA患者合适的治疗方案还没有一个统一的认识。LADA的异质性很强，抗体滴度部分反映体内自身免疫程度，根据抗体滴度水平可将LADA患者分为LADA-1型（高滴度）和LADA-2型（低滴度）。     

1型糖尿病相关的主要自身抗体及其检测的临床意义

该文综述了1型糖尿病(T1DM)相关的主要自身抗体及其检测的临床意义。T1DM的主要自身抗体包括胰岛细胞抗体(ICA)、谷氨酸脱羧酶自身抗体(GADA)、蛋白酪氨酸磷酸酶IA-2自身抗体(IA-2A)和胰岛素自身抗体(IAA)共四种。ICA是胰岛β细胞损伤的标志物,也是免疫介导疾病的一个标志。GADA是T1DM发病初期的免疫标志,也作为T1DM患者接受治疗时的疗效监测指标。IA-2A在成人隐匿性自身免疫性糖尿病(T1DM亚型)中具有较高的滴度,可用于成人隐匿性自身免疫性糖尿病的辅助诊断。IAA在TIDM自身免疫形成中发挥了重要作用,但它不是糖尿病特异性抗体,在甲状腺疾病和正常人群中均具有一定的阳性率。     

以高血压作为首发表现的 Turner综合征1例

<正>Turner综合征又称先天性卵巢发育不全综合征,病因为X染色体单体或X染色体结构异常,主要特征为身材矮小、青春期发育延迟、性发育幼稚及多种先天性躯体发育异常,除这些典型表现外,也可有一些非典型特征。本文报道1例以高血压为首诊原因、最终通过染色体核型检查确诊的Turner综合征患者,并结合国内外文献总结其病例特点,以帮助临床医生识别以高血压为主要表现的Turner综合征,避免漏诊误诊。1临床资料患者,女性,15岁,初三学生。     

Early recurrence or persistence of autoimmune diseases after unmanipulated autologous stem cell transplantation

Autologous stem cell transplantation with or without in vitro lymphocyte depletion has been suggested as a new treatment option for severe autoimmune diseases. We describe five patients with autoimmune diseases (CREST syndrome, myasthenia gravis and Hashimoto's thyroiditis, systemic lupus erythematosus, atopic dermatitis, and rheumatoid arthritis) who underwent autologous bone marrow (n = 1) or peripheral blood progenitor cell (n = 4) transplantation with unmanipulated grafts as treatment for the autoimmune disease in one case or as treatment for a malignant disorder with a concomitant autoimmune disorder in four cases. In all patients serological and clinical signs of the autoimmune disease recurred early or persisted. These observations should be regarded as a cautionary note concerning the efficacy of high-dose therapy followed by transplantation of unmanipulated autologous stem cells for treatment of severe autoimmune diseases.     

Pregnancy in rare autoimmune rheumatic diseases: UCTD, MCTD, myositis, systemic vasculitis and Beçhet disease

The physiological adaptation of the immune system to pregnancy can potentially affect the course of all autoimmune rheumatic diseases (ARD), conversely the autoimmune processes characteristic of these conditions may compromise the foetal outcome. Unfortunately, very few reports on pregnancy outcome in patients with rare ARD are available. In this paper, we briefly review the data published until now on these disorders. Some general guidelines which were elaborated for more prevalent ARD seem to be valid also for such rare conditions: 1) patients should be correctly informed on the risk of becoming pregnant; 2) pregnancies should be planned when the disease is in remission since it increases the probability of successful maternal and foetal outcome; 3) patients should be regularly monitored during gestation and postpartum by a multidisciplinary team including rheumatologist, obstetrician, and neonatologist; 4) in the case of disease relapse an adequate treatment, even aggressive if necessary, should be recommended since active disease can be more detrimental for foetus than drugs; 5) pregnancies complicated by the onset of rare ARD have a particularly severe prognosis; in these cases a prompt treatment and very close clinical surveillance are indicated.     

Use of Rituximab in the Antiphospholipid Syndrome

B cells are promising targets for treatment in autoimmune diseases. Rituximab, a chimeric anti-CD20 monoclonal antibody that depletes B cells, is approved for use in rheumatoid arthritis and is often used to treat refractory autoimmune thrombocytopenia. There is increasing interest in using rituximab in other autoimmune diseases, including the antiphospholipid syndrome. We reviewed the published clinical experience of rituximab use in patients with the antiphospholipid syndrome. Data are limited to case reports and small case series. In 19 of 21 reported cases, rituximab appeared to have a beneficial clinical effect. Antiphospholipid antibodies levels were significantly decreased in ten of 12 cases. Controlled clinical trials are needed to determine if rituximab is effective in the antiphospholipid syndrome.     

Liver involvement in Turner syndrome

Liver test abnormalities are frequent in adult patients with Turner syndrome, corresponding to various pathophysiological mechanisms. Steatosis, steatofibrosis and steatohepatitis are the most frequently reported lesions, caused by metabolic disorders, which are commonly related to overweight. Marked architectural changes, including nodular regenerative hyperplasia, multiple focal nodular hyperplasia and cirrhosis, found in some patients, are associated with a risk of severe liver‐related complications. Architectural changes are often observed and are associated with vascular disorders caused by congenitally abnormal vessels. Finally, small bile duct alterations resembling sclerosing cholangitis occur in several patients. Oestrogen replacement therapy does not cause liver toxicity in patients with Turner syndrome and is not contraindicated in case of elevated liver enzymes. Moreover, in recent studies, oestrogen therapy was reported to improve liver function tests. Because of the wide spectrum of potential liver injuries that may occur in Turner syndrome patients, a regular screening of liver enzymes is recommended for early detection and treatment.     

自身免疫性肝炎合并干燥综合征、桥本甲状腺炎伴白细胞减少1例

自身免疫性肝炎(autoimmune hepatitis,AIH)是临床上较常见的非病毒性肝炎类型,干燥综合征、桥本甲状腺炎也是常见的自身免疫性疾病,但合并以上3种自身免疫性疾病的病例较为少见.该文报道和回顾了1例以白细胞减少起病的AIH合并干燥综合征、桥本甲状腺炎的临床表现、诊断治疗过程,在临床工作过程中应注意非病毒性肝炎合并其他自免疾病的可能,提高诊疗质量.     

Immune Rebound: Multiple Sclerosis after Treatment of Cushing’s disease

High cortisol level in endogenous Cushing’s syndrome suppresses the immune system and after treatment there may be an over activity of immune reaction leading to autoimmune diseases mostly thyroid and rheumatologic disorders. This is the second reported case of multiple sclerosis developing after treatment of Cushing’s syndrome. A 42-year old man is reported who presented with bone fracture and osteoporosis and diagnosed with Cushing’s disease. Six months after surgical treatment of his pituitary adenoma, he developed progressive multiple sclerosis. We conclude that after treatment of endogenous Cushing’s syndrome, the patients should be watched for development of autoimmune disorders including those affecting the central nervous system.     

Hepatitis C and Autoimmune Hepatitis: What Gets Treated First?

The coexistence of chronic hepatitis C (CHC) and autoimmune hepatitis (AIH) creates a clinical dilemma. Histologic features may suggest the predominance of one versus the other. Nevertheless, histologic differences are not absolute. Immunosuppressive therapy may be used as frontline treatment for patients with predominant histologic features of AIH. In the absence of clinical and biochemical improvement, interferon should not be withheld and a trial of antiviral therapy should be considered. Interferon can be frontline therapy for patients with the overlap syndrome, if histologic features of CHC predominate, a low titer of autoantibodies is present, and coexistent autoimmune diseases are absent. No matter what treatment is offered, close monitoring during the course of treatment is a necessity.     

Hemophagocytic syndrome in elderly patients with underlying autoimmune diseases

In patients with autoimmune disease-associated hemophagocytic syndrome (AAHS), the clinical features may differ from hemophagocytic syndrome (HPS) of other etiologies, and new criteria for AAHS have been proposed. Since bone marrow (BM) circumstances are changed according to aging, here we reviewed retrospectively our cases with AAHS in elderly patients, including two systemic lupus erythematosus (SLE), three Evans syndrome, one rheumatoid arthritis (RA), one Hashimoto thyroiditis, and one autoimmune pancreatitis. Although only two SLE patients were diagnosed as HPS by the classical criteria, the remaining patients except one RA met the criteria for AAHS. Seven patients except one SLE patient showed good response to therapy and demonstrated positive autoantibodies to blood cells, lower serum ferritin levels, and increased erythroblastic islands in the BM. We consider the diagnosis of AAHS should be carefully made when macrophages phagocytosing blood cells are observed in BM smear without hyperferritinemia in elderly patients with autoimmune diseases.     

The Unusual Case of Fibroma of Tendon Sheath in a Young Girl with Turner Syndrome Undergoing Growth Hormone Treatment

Fibroma of tendon sheath (FTS) is an uncommon mass that arises from the tendon sheath of extremities. The tumor typically affects adults between ages 20 and 50 years with a predominance in males. To date, growth hormone (GH) treatment is safe for children with Turner syndrome without risk factors and is accepted worldwide. This article reports the case of a nine-year-old female patient with Turner syndrome and FTS during GH treatment. She had been treated with daily subcutaneous GH to improve growth failure with a mean dose of 0.28 mg/kg/week and the level of insulin-like growth factor-1 was within the normal range. During the follow-up period, she complained about a mass in her hand, subsequently diagnosed as FTS. This report illustrates the clinical impact of Turner syndrome and GH treatments on the occurrence of this tumor through literature reviews. Further studies are needed to highlight the association between FTS and GH treatment, especially in Turner syndrome.     

Cyclosporin-induced cortical blindness in a patient with dermatomyositis

Cyclosporin A (CsA) has various adverse effects including neurotoxicity. We report the case of a 49-year-old Japanese woman with dermatomyositis who showed CsA-induced cortical blindness. The patient demonstrated cortical blindness despite having a normal blood concentration of CsA. The risk factors of CsA-induced cortical blindness include the use of corticosteroids and vascular injury, which are frequently observed in patients with systemic autoimmune diseases. Clinicians should consider CsA neurotoxicity when using CsA for patients with systemic autoimmune diseases.