韦格纳肉芽肿病11例临床特征分析

目的韦格纳肉芽肿病(WG)是一病因不清的少见的系统性血管炎。通过分析病例系列以描述疾病的临床特征,治疗和病情随访。方法回顾性地收集11例来自1999—2005年我院风湿科住院WG患者,分析临床及实验室特征。结果所有WG患者都有上下呼吸道累及。肺、上呼吸道和肾是最常累及的器官。多数患者接受了静脉注射甲泼尼龙(MP)0．5g/d×3d,随后静脉注射环磷酰胺(CTX)750 mg/m~2,每月用1 g,共治疗6～8次,疗效好,长期随访病情稳定。结论WG是系统性血管炎,以上、下呼吸道及肾脏受累最多见；病理特点为坏死性肉芽肿和血管炎,联合免疫抑制治疗可取得较好的疗效。     

肉芽肿性多血管炎合并颅内动脉瘤

目的总结肉芽肿性多血管炎(granulomatosis with polyangiitis,GPA)并发颅内动脉瘤临床特征、治疗及预后。方法报道1例GPA并发颅内动脉瘤病例。结果患者行双侧大脑中动脉瘤夹闭术,术后恢复良好。结论及时完善相关检查可GPA并发颅内动脉瘤为患者的治疗争取时间,明显改善预后。治疗上应积极应用大剂量皮质激素和环磷酰胺,必要时予手术处理。     

甲氨蝶呤联合来氟米特治疗类风湿关节炎患者临床疗效及安全性

目的评价甲氨蝶呤联合来氟米特治疗类风湿关节炎(RA)患者的临床疗效以及安全性。方法将80例RA患者随机分为单纯甲氨蝶呤治疗组(SMTT组)40例,口服甲氨蝶呤10¹5 mg 1次/w;甲氨蝶呤联合来氟米特治疗组(MTPLFT组)40例,口服甲氨蝶呤1015 mg 1次/w;甲氨蝶呤联合来氟米特治疗组(MTPLFT组)40例,口服甲氨蝶呤10¹5 mg1次/w,来氟米特20 mg 1次/d,持续给药3 d后改为50 mg 1次/d;疗程均为3个月,观察临床症状即晨僵、握力、关节压痛数、关节压痛指数、关节肿胀数、关节肿胀指数及血清学检测血沉(ESR)、C反应蛋白(CRP)、白细胞介素(IL)-1β、IL-6、肿瘤坏死因子(TNF)-α水平。结果与治疗前比较,两组治疗后临床症状晨僵、握力、关节肿胀数和关节疼痛数均有明显改善(P<0.01),ESR、CRP、IL-1β、IL-6和TNF-α均明显降低(P<0.01),且MTPLFT组均优于SMTT组(P<0.01)。结论甲氨蝶呤联合来氟米特通过降低ESR、CRP、IL-1β、IL-6和TNF-α明显改善RA患者的临床症状,是一种有效的联合治疗方案。     

变应性肉芽肿血管炎八例临床特征分析

目的 变应性肉芽肿血管炎（CSS）是一种病因不清的少见的系统性血管炎。通过分析病例系列以描述疾病的临床特征、治疗和病情随访。方法 回顾性地收集8例2000-2005年我院风湿科住院CSS患者，分析临床及实验室特征。结果 所有CSS患者都有哮喘和嗜酸粒细胞增高。肺、皮肤和周围神经系统是最常累及的器官。多数患者接受了静脉滴注甲基泼尼龙冲击治疗，0．5g/d，连续3d，随后静脉注射环磷酰胺（CTx）750mg／m^2，每月用1g，共6～8次治疗，疗效好，长期随防病情稳定。结论 CSS是系统性血管炎，有哮喘病史，联合免疫抑制治疗可取得较好的疗效。     

急性早前T淋巴细胞白血病新方案诱导缓解的疗效观察

目的:成人急性淋巴细胞白血病尚无标准诱导治疗方案，急性早前T淋巴细胞白血病(ETP-ALL)对标准的强化化疗反应差，复发风险高，预后差。拟探讨合适的诱导方案来提高其缓解率，延长患者生存期。方法:回顾性分析2017年1月—2020年12月接受不同方案诱导化疗的21例初诊ETP-ALL患者的疗效及主要不良反应。初诊ETP-ALL根据骨髓细胞学、流式细胞术免疫表型检测结果诊断。结果:21例患者中男14例，女7例；中位年龄27(16～57)岁；7例接受PCIOD方案[培门冬酶注射液：2500 IU/m²肌肉注射，第1、14天；环磷酰胺：800 mg·m^-2·d^-1,第1天；伊达比星：6～8 mg(总量10 mg),第1～3天；长春地辛：4 mg,第1天；地塞米松：20 mg/d,第1～7天]治疗。14例接受VTLP样方案(吡柔比星：40 mg/m²分3 d或柔红霉素30～45 mg·m^-2·d^-1,第8、15、22、29天；长春地辛：3 mg/m²     

CTD方案治疗难治或复发多发性骨髓瘤

目的应用环磷酰胺、沙立度胺及地塞米松(CTD)方案治疗难治或复发多发性骨髓瘤(MM)。方法20例难治或复发MM患者接受沙立度胺,100~200mg/d,口服持续应用;环磷酰胺,200~300mg.m-2.d-1,1~4d,静脉注射;地塞米松,20~40mg/d,1~4d,口服。4周为1个疗程。3个疗程后,若出现疗效或病情稳定则再连续应用3个疗程;若病情进展,则停止治疗。结果3个疗程后,13例(65%)患者显示治疗反应,其中9例患者获部分缓解,4例患者获微小缓解。而5例患者病情稳定,2例进展。对病情未进展的18例患者继续治疗3个疗程后再次评价,则部分缓解13例(65%),获微小缓解5例。结论CTD是一个具有较好治疗前景的方案。     

西咪替丁合并放疗对老年鼻咽癌患者免疫功能的影响及疗效

目的探讨西咪替丁合并放疗对老年鼻咽癌患者的治疗作用。方法老年鼻咽癌患者60例随机分为对照组和西咪替丁组各30例。对照组与西咪替丁组都给予直线加速器行外照射放疗,原发灶放疗剂量为70⁷5 Gy/775 Gy/7⁸ w,西咪替丁组加用西咪替丁口服,按308 w,西咪替丁组加用西咪替丁口服,按30³5 mg·kg-1·d-1计算,qid,其中21例口服4个月,9例口服535 mg·kg-1·d-1计算,qid,其中21例口服4个月,9例口服5⁶个月。两组患者于治疗前和治疗后抽取外周血检测CD3、CD4、CD8、CD4/CD8、NK水平,统计两组患者5年生存率、5年肿瘤复发率和远期并发症的情况。结果放疗组治疗前后CD4和NK水平都有明显的改变(P<0.05),而CD3、CD8和CD4/CD8治疗前后无明显改变(P>0.05),西咪替丁组治疗后CD4、CD8、CD4/CD8和NK水平与治疗前有明显的改善(P<0.05);与放疗组相比,西咪替丁联合放疗能够显著改善CD8、CD4/CD8和NK的水平(P<0.05),而两组治疗后的CD3和CD4水平无明显差异(P>0.05)。放疗组和西咪替丁联合放疗组的5年生存率分别为59.26%和67.86%,两者无明显差异(P>0.05),而放疗组肿瘤5年复发转移率(48.15%)明显高于西咪替丁组(21.43%)(P<0.05);放疗组有13例患者出现颈肌纤维化、放射性中耳炎和张口受限等并发症,与西咪替丁联合放疗组相比无明显差异(P>0.05)。结论西咪替丁具有较好的免疫调节作用,并且价格低廉、安全有效,但具体作用机制尚需证实。     

糖皮质激素不同给药方式对AECOPD患者炎症因子及肺功能的影响

目的探讨糖皮质激素不同给药方式对慢性阻塞性肺疾病急性加重期(AECOPD)患者炎症因子及肺功能的影响。方法 94例AECOPD患者随机分为静脉组(32例)、口服组(32例)和雾化吸入组(30例)。均在抗感染、平喘、化痰及维持酸碱平衡等常规对症治疗的基础上,静脉组:甲泼尼龙1 mg·kg~(-1)·d~(-1),第1~3d,0.5 mg·kg~(-1)·d~(-1),第4~7d;口服组:泼尼松30~40mg/d,第1~7d;雾化吸入组:布地奈德4mg/d,2次/d,第1~7d。比较各组患者血清炎症因子、肺功能变化,以及不良反应发生情况。结果治疗后,各组血清各炎症因子均明显降低(P0.05),而各组间治疗后各炎症因子无显著性差异(P0.05);治疗后,各组肺功能指标均有不同程度改善,静脉组FEV_1%、FEV_1/FVC显著优于雾化吸入组(P0.05),而各肺功能指标在静脉组与口服组,口服组与雾化吸入组间无显著性差异(P0.05);雾化吸入组的不良反应发生率显著低于静脉组、口服组(P0.05),而静脉组、口服组不良反应发生率无显著性差异(P0.05)。结论全身性和吸入性糖皮质激素治疗AECOPD患者均能获得良好的治疗效果,可抑制炎性反应,改善肺功能,但雾化吸入的并发症少。     

盐酸小檗碱致肾移植受者环孢素血药水平升高1例

患者女,50岁,于6 a前行同种异体肾移植术,术后采用环孢素(CsA) 泼尼松 硫唑嘌呤(Aza)三联免疫抑制方案,具体方法:术中及术后第1、2天各静滴甲基泼尼松0.5g,术后第3天改泼尼松80 mg/d口服,每天递减10 mg至20mg维持,0.5～1 a后改为15 mg/d,维持剂量为10 mg/d;术后第2天开始口服CsA,8 mg/(kg·d)、2次/d,第2个月减至5～7 mg/(kg·d),第3个月减至4～6 mg/(kg·d),其后调整至维持剂量3～5 mg/(kg·d);术前1 d及术日分别顿服Aza 200、100 mg,术后第3天改为50 mg/d口服维持.     

芍药甙对日本血吸虫病小鼠肝组织纤维化的影响

目的观察芍药甙对日本血吸虫感染小鼠肝组织纤维化的影响,探讨芍药甙预防血吸虫病肝虫卵肉芽肿及纤维化的作用机制。方法日本血吸虫尾蚴感染小鼠,制备肝虫卵肉芽肿和纤维化小鼠模型。随机分为5组:正常对照组(A组),给予芍药甙组(B组、C组、D组),3组分别为予芍药甙30mg/(kg·d)、60mg/(kg·d)、120 mg/(kg·d),及感染对照组(E组)。B、C、D和E 4组小鼠均在感染后6周灌胃吡喹酮(400mg/(kg·d)×2 d)。感染后14周处死小鼠取血及肝脏、用HE及Masson胶原纤维染色观察肝虫卵肉芽肿而积及纤维化程度,用免疫组化技术检测转化生长因子β1(TGF-β1)和Ⅰ、Ⅲ型胶原表达情况。结果 B、C、D组与阳性对照组E组相比.TGF-β1、Ⅰ和Ⅲ型胶原水平明显下降(均P0.05),而且随芍药甙给药浓度增加,B组、C组、D组TGF-β1、Ⅰ和Ⅲ型胶原表达水平逐渐减少。结论在吡喹酮杀虫处理的基础上联合应用芍药甙,可通过减少肝组织TGF-β1和Ⅰ、Ⅲ型胶原的表达,明显减少肝虫卵肉芽肿形成,减轻肝纤维化程度,对血吸虫病小鼠早期肝纤维化形成有阻抑作用。     

Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: report of 6 new cases and a literature review

Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown origin. It is characterized by xanthomatous or xanthogranulomatous infiltration of tissues by spumous ("foamy") histiocytes. As of this writing, 178 cases have been reported. ECD is characterized by heterogeneous systemic manifestations. Bone pain is the most frequent symptom. About half of all patients have extraskeletal manifestations. Cardiovascular manifestations of ECD remain underestimated. We report 6 new cases of ECD associated with periaortic fibrosis. In 4 of these cases, the whole aorta had a "coated" aspect. A literature review revealed 66 cases of ECD with cardiovascular involvement. We therefore analyzed 72 ECD patients with cardiovascular involvement: 40 (55.6%) had periaortic "fibrosis," 32 (44.4%) had pericardial involvement, and 22 (30.6%) had myocardial involvement. Six had a right atrial tumor. Symptomatic valvular heart disease (3 aortic and 3 mitral regurgitations) was found in 6 patients. Nineteen patients (26.4%) had heart failure, leading to death in 8 cases. Six patients had renovascular hypertension related to perirenal artery stenosis. Data concerning follow-up were available for 58 (80.6%) patients. Of these, 35 (60.3%) patients died, confirming the severe prognosis of ECD. Cardiovascular complications were responsible for the death of 11 of the 35 patients (31.4%).     

Improvement of Erdheim–Chester disease in two patients by sequential treatment with vinblastine and mycophenolate mofetil

Erdheim–Chester disease (ECD) is a rare non-Langerhans form of histiocytosis with a plethora of different clinical manifestations owing to multiple organ involvement. We report two patients who presented initially with different clinical symptoms. The presenting complaint of the first patient was bone pain, predominantly in the legs, whereas in the other patient the initial symptoms were related to obstruction of both ureters, as in idiopathic retroperitoneal fibrosis. Ultimately, ECD was diagnosed in both patients by the occurrence of both pathognomonic manifestations, the histologic presence of non-Langerhans histiocytes in bone biopsies, and osteosclerotic lesions of the long bones. Because the extraosseous manifestations progressed and a single application of corticosteroids was ineffective, sequential treatment with vinblastine and mycophenolate mofetil, together with prednisolone, was started. At follow-up respectively 15 and 16 months after the start of treatment a beneficial effect was noted in both patients. These cases illustrate the clinical spectrum of ECD, detail the pathognomonic manifestations of this rare disease, emphasize the need to consider ECD as an uncommon but important differential diagnosis in patients with arthralgias or systemic fibrosis, and give the first evidence for a new treatment option.Abbreviations ECD Erdheim–Chester disease - MMF mycophenolate mofetil - LCH Langerhans cell histiocytosis     

Cardiovascular Involvement in Erdheim–Chester Disease: A Case Report and Review of the Literature

Erdheim–Chester disease (ECD) is a rare, multiorgan, non-Langerhans cell histiocytosis of uncertain origin, characterized by systemic xanthogranulomatous infiltration from CD68+CD1a- histiocytes. Skeletal involvement is present in up to 96% of cases with bilateral osteosclerosis of meta-diaphysis of long bones. Furthermore, in more than 50% of cases there is 1 extraskeletal manifestation. In this case report, we describe an interesting case of ECD with an extensive pan-cardiac and vascular involvement, in addition to skeletal, retro-orbital, and retroperitoneum one.A 44-year-old woman with a long history of exophthalmos referred to our hospital for elective surgical orbital decompression. At preoperative examinations a large pericardial effusion was discovered. Echocardiography, computed tomography (CT), and magnetic resonance imaging (MRI) described an inhomogeneous mass involving pericardium and the right heart, abdominal aorta and its main branches and the retroperitoneum, suggestive for a systemic inflammatory disorder. Histological examination on a biopsy sample confirmed the diagnosis of ECD. Radiology showed the pathognomonic long-bone involvement. Surgical orbital decompression was performed and medical therapy with interferon-α (INF-α) was started.Among extraskeletal manifestations of ECD, cardiovascular involvement is often asymptomatic and thus under-diagnosed but linked to poor prognosis. This is why clinician should always look for it when a new case of ECD is diagnosed.     

Utilisation de thérapie ciblée dans la maladie d’Erdheim-Chester : à propos d’un cas avec atteinte du système nerveux central

IntroductionErdheim-Chester disease (ECD) is a rare multisystemic disease characterised by an infiltration of various organs by CD68⁺ CD1a⁻ histiocytes. The clinical and radiological presentation is very variable.Case reportWe report the case of a 71-year-old woman with ECD which was revealed by neurological and cutaneous manifestations. The diagnosis was confirmed by skin biopsy and the BRAFV600E mutation was identified in skin tissue, leading to the use of combined therapy targeting the RAS-RAF-ERK-MEK pathway. This therapy allowed an improvement of cutaneous manifestations but neurological manifestations lead to death, underlying their notable severity.ConclusionOur case report shows the persistent diagnostic difficulty of the ECD and the particular gravity of neurologic involvement.     

Sinonasal and ear manifestations of Erdheim-Chester disease

To calculate the prevalence of sinonasal and ear involvement in an Erdheim-Chester disease (ECD) population, to describe the different ear, nose and throat (ENT) manifestations and to study the association between ENT involvement, other organ involvement, and BRAF mutations. We led a retrospective monocentric study in the national referral center for ECD. One hundred and sixty-two patients with ECD and ENT data were included between January 1, 1980 and December 31, 2020. Ear and nose clinical and radiological findings were noted. We described and studied the prevalence of ENT involvement in ECD population. The association between sinonasal and ear involvement, other organ involvement, and BRAF mutations was calculated. The prevalence of ENT manifestations is around 45%. No clinical rhinologic or otologic signs were specific to ECD. Sinus imaging was abnormal in 70% of cases. A bilateral maxillary sinus frame osteosclerosis was highly specific of ECD. Associations were found between the sinus MRI imaging type and BRAF status, central nervous system involvement, cerebellum involvement and xanthelasma. Sinonasal or ear involvement is frequent in ECD and has specific imaging features for sinuses. Trial registration: #2011-A00447-34.     

Variability in the efficacy of interferon-alpha in Erdheim-Chester disease by patient and site of involvement: results in eight patients

OBJECTIVE: Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown origin, characterized by infiltration of tissues by spumous histiocytes. ECD features heterogeneous systemic manifestations, and the general prognosis remains poor despite various treatment options. METHODS: We treated 8 patients with multisystemic ECD with subcutaneous interferon-alpha (IFNalpha) at a dosage of 3-9 x 10(6) units 3 times weekly, for a median duration of 23 months (range 1-46 months). RESULTS: Treatment was generally well tolerated, and side effects remained limited to fever following injections. Treatment was discontinued in 1 patient, because of severe depression. During treatment, some manifestations of ECD disappeared (i.e., xanthelasma, exophthalmos, papilledema, and intracranial hypertension). The efficacy of IFNalpha on cardiovascular ECD was variable, however. Treatment resulted in partial regression of "coated aorta" in some cases and clear failure in others; 2 patients died. The level of C-reactive protein diminished sharply in 5 patients. CONCLUSION: IFNalpha might be a valuable first-line therapy for prolonged treatment of ECD. However, the efficacy of IFNalpha varies among patients and according to the sites of disease involvement, and symptoms may fail to respond to treatment, especially in patients with severe multisystemic forms of ECD with central nervous system and cardiovascular involvement.     

Abnormal regional cerebral blood flow in primary antiphospholipid antibody syndrome patients with normal magnetic resonance imaging findings. A preliminary report

Technetium-99m ethyl cysteinate dimer (Tc-99m ECD) brain single photon emission computed tomography (SPECT) was used to detect abnormal regional cerebral blood flow (rCBF) in primary antiphospholipid antibody syndrome (PAPS) patients. The patients had mild neuropsychiatric manifestations and normal brain magnetic resonance imaging (MRI) findings in this preliminary study. Fifteen such female PAPS patients were examined with Tc-99m ECD brain SPECT in order to evaluate the rCBF. In addition, serum anti-cardiolipin antibodies (ACA) and lupus anticoagulant (LA) were simultaneously measured for comparison. RESULTS: (a) Tc-99m ECD brain SPECT revealed hypoperfusion brain lesions in 12 (80%) of the PAPS patients. Pariental lobes were the most commonly involved areas. (b) 11 (73%) and 9 (60%) cases had positive ACA and positive LA, respectively. In addition, ACA and LA results were correlated to the Tc-99m ECD brain SPECT findings. Tc-99m ECD brain SPECT is a sensitive tool for detecting abnormal rCBF in PAPS patients with mild neuropsychiatric manifestations and normal brain MRI findings.     

Erdheim chester - A rare disease with unique endoscopic features

Erdheim-Chester disease (ECD) is a rare inflammatory syndrome in which systemic infiltration of non-Langerhans cell histiocytes occurs in different sites. Both the etiology and pathophysiology of ECD are unknown, but CD68 positive CD 1a/S100 negative cells are characteristic. The presentation of ECD differs according to the involved organs. This case report describes a patient with ECD and the gastrointestinal manifestations and unique endoscopic appearance as seen in gastroscopy and colonoscopy with histological proof of histiocyte infiltration of the lamina propria. The clinical and endoscopic findings of this unique case, to our knowledge, were never described before, so were the features of the gastrointestinal involvement in this disease.     

Rapid progression to cardiac tamponade in Erdheim–Chester disease despite treatment with interferon alpha

Erdheim–Chester disease (ECD) is a rare form of non-Langerhans histiocytosis with heterogeneous clinical manifestations. The most common presentation is bone pains typically involving the long bones. Approximately 75% of the patients develop extraskeletal involvement. Cardiac involvement is seen in up to 45% of the patients, and although, pericardial involvement is the most common cardiac pathology of this rare disease, cardiac tamponade due to ECD has been very rarely reported. We describe a case of a patient found to have ECD with multi-organ involvement and small pericardial effusion, which progressed to cardiac tamponade despite treatment with interferon alpha.     

Psychoneuroendocrine disturbances in a patient with a rare granulomatous disease.

Erdheim-Chester disease (ECD) and Langerhans' cell histiocytosis (LCH) are rare granulomatosis-like diseases of unknown etiology which are characterized by lipoidgranulomatous infiltrates in various organs. Contrary to LCH, endocrine and cerebral lesions were infrequently observed in ECD. We report on a patient with the clinical diagnosis of ECD displaying endocrine and cerebral manifestations and skeletal, pulmonary and soft tissue involvement. Disturbance of the endocrine system was revealed by enlargement of the pituitary, partial deficiency of growth hormone (GH), hyperprolactinemia and testosterone deficiency. Cerebral involvement included sinus vein thrombosis, pathologic acoustic evoked potentials, persistence of gadolinium enhancement after magnetic resonance imaging and hypomania. These findings emphasize the importance to assess endocrine and cerebral function in patients with rare granulomatous diseases like ECD and multiorgan involvement.