Pulmonary amyloidosis in Sjogren's syndrome: A case report and systematic review of the literature

Amyloidosis is a heterogeneous group of disorders characterized by misfolding of extracellular proteins. The two most common forms are light‐chain (AL) and reactive (AA) amyloidosis. Pulmonary amyloidosis secondary to Sjogren's syndrome (SS) is rare, and there is a paucity of data on its clinical and radiological features. We describe the case of a 41‐year‐old woman with diffuse septal pulmonary AL (λ) amyloidosis related to SS, in the absence of systemic amyloidosis. A systematic search for pulmonary amyloidosis in SS yielded 37 cases. Amyloidosis occured almost exclusively in women (96.5%). Cough and dyspnoea (56%) were the most common symptoms. The diagnosis of pulmonary amyloidosis was made subsequent to that of SS, with a median delay of 7 years. Radiologically, diffuse nodules with (45.5%) or without (33.3%) multiple cysts were the most common pattern. Most cases were related to nodular AL amyloidosis (both κ and λ). Diffuse septal AA amyloidosis has been reported in SS. The index patient is the first documented case of diffuse septal pulmonary AL amyloidosis in SS, without systemic amyloidosis. Surgical lung biopsy (78%) is usually required to establish the diagnosis and rule out lymphoma. There is no data to support any definitive therapeutic intervention for SS‐related pulmonary amyloidosis. Observation is sufficient for nodular amyloidosis. Further studies are necessary to assess the efficacy of current therapies in diffuse septal amyloidosis secondary to SS.     

Agranulocytosis and mixed‐type autoimmune hemolytic anemia in primary sjögren's syndrome: a case report and review of the literature

Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease that presents with sicca symptoms of the main mucosal surfaces. Patients with pSS have a broad spectrum of laboratory features, such as cytopenias and hypergammaglobulinemia. Although hematological abnormalities are usually seen in pSS patients, agranulocytosis and autoimmune hemolytic anemia (AIHA) are rare. Here we describe a 40‐year‐old woman with pSS who developed both agranulocytosis and mixed‐type AIHA. An increased risk of malignancies has also been reported in pSS patients with hematological changes. Although there is no evidence of malignancies, this patient should be closely followed up in case of developing lymphoma.     

Significance of anti‐α‐fodrin autoantibody in diagnosis of Sjogren's syndrome

Objective: Anti‐α‐fodrin autoantibody has been reported to be a highly specific and sensitive test for the diagnosis of Sjogren's syndrome (SS). The objective of our report is to investigate the sensitivity and specificity of anti‐α‐fodrin antibody in patients with SS and its correlation with clinical manifestations. Methods: Recombinant human α‐fodrin was used as envelope antigen in enzyme‐linked immunosorbent assay (ELISA) to detect the relatively specific autoantibody in sera of 42 primary SS, 24 secondary SS with systemic lupus erythematosus (SLE) or rheumatoid arthritis (RA), and 40 other connective tissue diseases (CTDs) (SLE 17, RA 8, ankylosing spondylitis 5, dermatomyositis 5, systemic schlerosis 3, mixed connective tissue disease 1, Takayasu's disease 1) patients. Results: Antibodies against α‐fodrin were present in 59.5% of primary SS patients, 31.5% of secondary SS patients, 35.0% and 11.3% of other CTD patients and controls, respectively; the specificity of anti‐α‐fodrin antibody was 79.4% in patients with SS. It showed no significant difference between primary and secondary SS (P > 0.05), as well as SS compared with other CTD patients (P > 0.05). The positive rates of antibodies against α‐fodrin in CTD patients were significantly higher than those in non‐CTD patients and normal controls (P < 0.01). The presence of anti‐α‐fodrin antibodies has no significant correlation with clinical manifestations or other autoantibodies, while the levels of sera IgG and erythrocyte sedimentation rate (ESR) are higher in α‐fodrin antibody‐positive patients (IgG: 23.2 vs. 18.6, P < 0.05; ESR: 52.9 vs. 37.1, P < 0.05) than α‐fodrin antibody‐negative patients. Anti‐α‐fodrin antibodies are all negative in anti‐SS antigen A and antinuclear antibody‐negative SS patients. Conclusion: The result showed a lower sensitivity and specificity for anti‐α‐fodrin antibody as a diagnostic marker of SS, compared with previous reports. Anti‐α‐fodrin antibodies had no significant association with clinical manifestations, but might be related to the sera IgG level. Antibodies against α‐fodrin played no important roles in diagnosis of antibody‐negative SS patients.     

Neuromyelitis optica spectrum disorder complicated with Sjogren syndrome successfully treated with tocilizumab: A case report

A 38-year-old woman with relapsing longitudinal extensive transverse myelitis and Sjogren's syndrome (SS) was admitted with lower extremity muscle weakness. Studies showed high serum titer of anti-aquaporin4 antibody and gadolinium-enhanced-MRI T1-weighted lesions within thoracic cord. Clinical findings suggested neuromyelitis optica-spectrum disorder (NMO-SD). High-dose corticosteroids, plasma exchange and cyclophosphamide were not effective. After starting tocilizumab, her neurological findings gradually improved. This report describes the first evidence to show tocilizumab could be effective for NMO-SD with SS.     

Coexistance of Sjogren's syndrome and familial Mediterranean fever

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent, self‐limited attacks of fever usually accompanied by polyserositis. Sjögren's syndrome (SS) is a chronic autoimmune disease characterized by dry eyes, dry mouth and musculoskeletal system involvement. To our knowledge, coexistence of FMF and SS has not been reported before in the literature. We report a patient being followed up with the diagnosis of FMF over 20 years and later developing SS.     

胰岛素自身免疫综合征的诊治

胰岛素自身免疫综合征(IAS)为少见病.通过报道1例IAS并结合国内近20年报道的50例IAS病例,讨论IAS的诊治.临床上对伴有Graves病、服用他巴唑的高胰岛素性低血糖症患者,应检测胰岛素自身抗体,以避免误诊和不必要的手术.     

老年干燥综合征患者临床特点及相关因素分析

目的 探讨不同年龄原发性干燥综合征(pSS)患者的临床、实验室检查及治疗特点.方法 收集84例干燥综合征患者的临床资料,按年龄分为中青年组和老年组,回顾性分析其临床特点、实验室指标及药物治疗的差异,并应用卡方检验进行统计学分析.结果 干燥综合征患者84例,老年组30例,中青年组54例;老年组患者口干、眼干及猖獗龋的阳性...     

Isaacs' syndrome in a patient with dermatomyositis: case report and review of the literature

This is a case report of Isaacs' syndrome in dermatomyositis. The patient presented with proximal muscle weakness, rash, elevated muscle enzyme, myopathic electromyograph and typical muscle biopsy. Ultimately he developed typical symptoms of Isaacs' syndrome which is an autoimmune channelopathy from voltage gated potassium channel antibody (anti‐VGKC) leading to dysfunction of axonal discharge at neuromuscular junctions. It shares some similar characteristics with dermatomyositis such as autoimmunity, its association with malignancy and the response to treatment.     

特纳综合征合并成人隐匿性自身免疫性糖尿病一例报道

特纳综合征(TS)是较罕见的性染色体疾病,染色体核型表现为X染色体部分或完全丢失。TS合并自身免疫性疾病发病率高。本例患者以DKA起病,体型瘦小,临床诊断为桥本氏甲状腺炎及LADA。本文通过探讨TS与LADA的潜在机制,旨在提高认识并及时筛查TS并发症。     

Sjogren's syndrome in a patient with ulcerative colitis and primary sclerosing cholangitis: Case report and review of the literature

Inflammatory bowel disease has been reported to co-exist with other autoimmune diseases. Sjogren's syndrome is an autoimmune disorder characterized by xerostomy and/or xerophthalmy. Sjogren's syndrome occurring in IBD has been very rarely reported.A 45-year old woman diagnosed ten years ago with ulcerative pancolitis and primary sclerosing cholangitis was referred to our outpatient IBD clinic because of xerostomy but not for xerophthalmy for the previous three months. The patient had been under azathioprine maintenance treatment (2 mg/kg) and achieved long-term disease remission for the past 4 years. Patient clinical examination and laboratory tests were unremarkable. Salivary gland biopsy and complete ophthalmologic investigation were performed and the patient was diagnosed with Sjogren's syndrome.Understanding sicca manifestations in IBD is difficult since the pathogenesis of this intestinal disorder is not yet clear. Of these complex autoimmune phenomena which occur along with IBD it is quite difficult to categorize concomitant Sjogren's syndrome as primary or secondary and literature is conflicting. The possibility of Sjogren's syndrome should always be considered and properly investigated in patients diagnosed with inflammatory bowel disease who develop a constellation of constitutional sicca symptoms.     

肾小管酸中毒的诊疗进展

肾小管酸中毒(RTA)是一类由于近端肾小管HCO3-重吸收和(或)远端肾小管泌H+功能障碍引起的临床综合征.该疾病的致病谱广泛,常见病因包括自身免疫性疾病(如干燥综合征)、慢性肾脏疾病、药物中毒、遗传性疾病等.生化特点以代谢性酸中毒、反常性碱性尿为主.该疾病常累及多个系统和器官,因此其临床表现复杂多变,易发生骨软化症、尿结石、慢性肾功能不全等各种并发症,致残率高.明晰病因并施以针对性治疗,能够明显改善预后.     

Clinical manifestations of inflammatory bowel disease: East and West differences

Inflammatory bowel disease (IBD) is very common in developed countries, while it is relatively uncommon in Asian countries. However, the incidence of IBD has been increasing in some Asian countries in recent years. Most cases of ulcerative colitis (UC) in Asia are of the chronic relapsing type, run a milder course, and the fulminant type is rarely seen. There is no difference in clinical manifestations between Asian and developed countries. The incidence of Crohn's Disease (CD) is mainly in males in Asia, while it is mainly in females in developed countries. The clinical manifestations of CD are similar between both sets of countries. In China there are less fistulae and perianal diseases, and extraintestinal manifestations of CD are uncommon. In China, 5.6% of patients with UC have a family history, which is lower than 10-20% in developed countries. NOD2/CARD15 variants in the locus of 16q112 (IBD1) are significantly associated with the susceptibility of CD in developed countries, but NOD2/CARD15 variants have not been found in Asian CD patients.     

原发性干燥综合征合并间质性肺疾病17例临床分析

目的探讨原发性干燥综合征合并间质性肺疾病的临床特征及治疗转归趋势。方法对17例该病患者的临床表现、实验室、影像学检查及治疗和预后情况进行回顾性分析。结果17例患者平均年龄60岁,女性居多,为13例。14例以干咳、发热或活动后呼吸困难等呼吸道症状就诊,易被误诊;17例患者均有抗SSA/SSB阳性,其中14例γ球蛋白升高,HRCT检查提示存在周边分布、下肺分布特性的磨玻璃样改变、网格状影、蜂窝影等的混合性表现有助早期发现肺部病变及指导预后。全部行糖皮质激素治疗,16例患者预后较好,1例患者因合并呼吸衰竭死亡。结论对干燥综合征早期行HRCT检查和重视呼吸衰竭的防治,有助于提高其并发的间质性肺疾病的诊断和改善预后。