ANCA相关性肾小球肾炎合并IgG4相关性肾小管间质性肾炎一例

抗中性粒细胞胞质抗体（ANCA）相关性血管炎常累及肺肾等器官,该文报道1例ANCA相关性肾小球肾炎（ANCA-GN）合并IgG4相关性肾小管间质性肾炎（IgG4-TIN）病例,患者为51岁男性,以发热伴咳嗽起病,伴尿量减少,蛋白尿、血尿不明显,其血清学髓过氧化物酶滴度明显升高、核周型ANCA阳性,IgG4轻度升高（肾上腺皮质激素使用后）,肾脏病理学检查示有毛细血管袢断裂、皱缩伴新月体形成,肾间质可见较多淋巴细胞、浆细胞浸润伴轻度纤维化,免疫组织化学染色浆细胞显示以IgG⁺及IgG4⁺浆细胞为主,存在ANCA-GN合并IgG4-TIN可能,予抗感染、抗血管炎及血浆置换后患者病情好转出院。该例的诊治提示,对于不典型ANCA-GN患者如无明显血尿、蛋白尿、尿量减少等表现,需检测血清IgG4,病理上需注意观察有无IgG4-TIN特征性改变;对于临床上高度可疑的IgG4-TIN患者,还需同时排查IgG4所致的其他脏器改变,基线血清IgG4水平是IgG4相关性疾病活动、预测复发的标志物。     

肾移植术后人类微小病毒B19感染致纯红细胞再生障碍性贫血2例并文献复习

目的探讨肾移植术后人类微小病毒(HPV)B19感染致纯红细胞再生障碍性贫血(纯红再障)的诊断和治疗特点。方法总结南方医科大学南方医院器官移植科收治的2例肾移植术后HPV B19感染致纯红再障的病例,结合文献复习讨论该病的临床特点、诊断方法、治疗过程及预后。结果两例肾移植受者术后早发严重贫血且进行性加重,输血治疗无效。排除导致贫血的其他原因,综合骨髓穿刺活检、荧光聚合酶链反应(PCR)检测HPV DNA等方法诊断为HPV B19感染致纯红再障。经调整免疫抑制方案、静脉注射用免疫球蛋白(IVIG)等治疗后2例患者贫血症状明显改善。结论对于肾移植术后早期不明原因、进行性加重的贫血患者,特别是伴随网织红细胞缺乏者,应考虑HPV B19感染致纯红再障的可能性。骨髓穿刺及荧光PCR检测结果是诊断纯红再障的主要依据,免疫抑制剂减量和应用IVIG治疗是主要治疗措施。经治疗后,患者预后较好,但易复发。     

IgG4相关性疾病泌尿系统损害的临床特点分析

目的 总结和分析IgG4相关性疾病(IgG4-RD)泌尿系统损害的临床特点.方法 收集24例IgG4相关性疾病泌尿系统损害患者的临床资料,回顾性分析患者肾脏受累、治疗前后Scr、Hb、炎性反应指标和IgG4亚类水平的变化情况.结果 2010年8月至2014年5月经北京协和医学院肾内科确诊的IgG4相关性疾病泌尿系统损害病例24例,平均受累器官数目(4.38±1.55)个.治疗前血清IgG4[M(范围)]为12 750(1 460～ 59 400) mg/L,均伴炎性反应指标明显升高.20例患者有检测尿蛋白量,其中19例尿蛋白量升高,6例伴肾病综合征.21例患者Scr升高,均值为(410.48±352.17) μmol/L,其中3例需接受透析治疗.14例患者伴贫血,8例伴单侧或双侧肾脏体积缩小.21例Scr升高的患者中,11例患者肾功能不全因肾后性梗阻所致,3例病理证实为肾小管间质肾炎.与治疗前相比,24例患者糖皮质激素联合或不联合免疫抑制剂治疗1周后Scr明显下降(P＜0.05),治疗1个月后Scr下降更为明显(P＜0.01),3例透析患者均脱离透析.血沉于治疗1个月后亦明显下降(P＜0.01).IgG4亚类水平在治疗1个月时无显著下降(P＞0.05),治疗2个月时明显下降(P＜0.01).结论 IgG4相关疾病合并肾功能不全并不少见,对中至大量糖皮质激素治疗反应良好,治疗后Scr下降早于血沉和IgG4亚类.     

反相酶联免疫斑点法检测脐血B细胞免疫球蛋白分泌细胞的数量

以羊抗人ＩｇＧ－Ｆ（ａｂ’２）抗体作固相色免疫吸附剂，以硝酸纤维素膜为载体，借助于ＨＲＰ－亲和素建立了检测分泌免疫球蛋白分的细胞数的反相酶联免疫斑点法     

复发性口疮(RAU)与唾液免疫球蛋白、补体及溶菌酶活性关系的实验研究

本文对９９例复发性口疮患者，分别在初诊治疗前（发作期）和治疗后３月未发作时进行唾液ＳＩｇＡ、ＩｇＧ、ＩｇＭ、Ｃ３、Ｃ４及溶菌酶含量和活性检测，并以４５名健康学生唾液相应成份作为正常对照。实验结果表明：复发性口疮患者治疗前唾液ＳＩｇＡ、ＩｇＧ、ＩｇＭ、Ｃ３、Ｃ４及溶菌酶含量和活性，均远远低于正常人唾液相应成份（Ｐ＜０．０１）；复发性口疮患者治疗后，其唾液ＳＩｇＡ、ＩｇＧ、ＩｇＭ、Ｃ３、Ｃ４及溶菌酶含量和活性，均较治疗前有显著提高（Ｐ＜０．０１），其中ＩｇＧ、Ｃ４及溶菌酶含量和活性恢复较明显，与正常人唾液相应成份相似（Ｐ＞０．０５）。     

针药结合对周围性面神经麻痹患者的临床疗效及对免疫球蛋白的影响

目的:探讨针灸结合中药治疗周围性面神经麻痹的临床治疗效果及对患者免疫球蛋白的影响。方法:选取2014年10月至2016年10月西安市高陵区中医医院收治的周围性面神经麻痹患者110例,根据治疗方法不同分为针灸组和针药组,每组52,针灸组仅给予针灸疗法,针药组同时给予针灸和中药治疗。比较治疗后2组临床疗效,比较治疗前后不同时间2组患者面神经功能及免疫球蛋白IgA、IgG、IgM水平。结果:治疗后针药组临床总有效率高达96.15%,明显高于针灸组的81.03%,2组间差异有统计学意义(P0.01)。针灸组治疗后2~4周H-B评分明显高于治疗前,针药组治疗后1~4周H-B评分明显高于治疗前,差异有统计学意义(P0.05或P0.01),且明显高于针灸组,差异有统计学意义(P0.05或P0.01)。治疗后2组患者血清IgA、IgG及IgM水平均明显降低,差异有统计学意义(P0.01),且针药组明显低于针灸组,差异有统计学意义(P0.05或P0.01)。结论:针灸结合中药可迅速缓解周围性面神经麻痹患者临床症状和体征,改善患者面部神经功能,降低血清免疫球蛋白水平,提高整体治疗效果。     

Clinical,immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala,South India

X-linked agammaglobulinemia (XLA) is an X-linked recessive primary immunodeficiency disorder caused due to a pathogenic variant in the Bruton tyrosine (BTK) gene with an incidence of 1:379,000 live births and 1:190,000 male births. Patients affected with XLA present with recurrent infections of the gastrointestinal and respiratory tracts. Here we report the first case series of 17 XLA patients of 10 South Indian families with a wide spectrum of clinical and genetic features. In our cohort, patients presented mainly with recurrent pneumonia, gastrointestinal infection, otitis media, pyoderma, abscesses, empyema, arthritis, and osteomyelitis. Using next-generation and Sanger sequencing we have identified 10 unique pathogenic and likely pathogenic variants in 17 patients. This encompasses three nonsynonymous, two stop-gain, two frameshifts, two structural, and one splicing variant, out of which two of them are novel. Based on the type of variant, patients had variable clinical features and treatment responses. We have also evaluated Btk protein expression for six patients in comparison to the healthy individuals and determined mosaic Btk expression patterns in four mothers. We have also performed family screening in 6 families using Sanger sequencing and identified 19 carriers for the variant. The diagnosis for the patients led to the proper treatment i.e. 15 patients were on intravenous immunoglobulin (IVIG) and the other two had successful hematopoietic stem cell transplantation (HSCT). Unfortunately, two of our patients died due to sepsis, while on IVIG. We envision the present study could help in better understanding of patients with XLA and help in family screening and prenatal diagnosis. To the best of our knowledge, this is the largest case series of patients affected with XLA from South India.     

Immunoglobulin D-λ/λ biclonal multiple myeloma: A case report

BACKGROUNDImmunoglobulin D (IgD) multiple myeloma (MM) is a rare subtype of MM and commonly occurs in younger subjects but at a later stage of the International Staging System (ISS) when admitted. As a special type of IgD myeloma, IgD-λ/λ biclonal MM is rarer. Its serum protein electrophoresis and serum immuno-fixation electrophoresis (IFE) might find no anomalies even if the bone marrow (BM) examination is performed. Thus, it is easy to miss the diagnosis.CASE SUMMARYA 62-year-old man diagnosed as IgD-λ/λ myeloma (ISS stage III) was admitted with fatigue and weight loss. The physical examination suggested an anemic face, a few moist rales at the left lung base, and mild concave edema in both lower extremities. Laboratory examinations showed the elevated creatinine levels, β2-microglobulin, lactic dehydrogenase, and erythrocyte sedimentation rate, while the decreased neutrophils, granulocytes, and hemoglobin. In the serum protein electrophoresis, there appeared two inconspicuous M-spikes. Serum IFE indicated an over-representation of lambda light chain and yielded two monoclonal bands in λ region, but only one corresponding heavy chain band in the antisera to IgD region. The BM histology and BM cytology both supported the diagnosis of IgD-λ/λ myeloma.CONCLUSIONThis case highlights the differential clinical manifestations and laboratory findings of IgD-λ/λ myeloma to help minimize the chance of misdiagnosis.