神经系统症状为首发表现的血栓性血小板减少性紫癜1例报告

<正>血栓性血小板减少性紫癜(TTP)是血液科急重症,根据"五联征"或"三联征"诊断并不困难。但此病临床上少见,大多急骤起病、进展快、病情凶险、缺乏特异性临床症状和体征,容易误诊、漏诊。本病例以中枢神经系统症状为首发表现,首先考虑为脑膜脑炎或脑血管病等神经系统疾病,且患者合     

IgDλ型多发性骨髓瘤1例

为了提高对IgD型多发性骨髓瘤（IgD型MM）临床和实验室检查特点的认识,减少临床漏诊和误诊,本文报道伴骨髓纤维化和骨髓坏死的IgDλ型多发性骨髓瘤1例,并就IgD型MM的特点、治疗和预后进行了讨论。IgD型MM发病率低,但多见于男性和年轻人,对常规治疗反应差,预后不良;用常规实验室检测时,IgD型MM通常被误诊为轻链型多发性骨髓瘤,由于IgD型MM的蛋白含量较低,不易检测,易造成漏诊,免疫固定电泳对IgD型MM的诊断具有高度的敏感性和特异性,能提高这一少见类型的MM患者的检出率。     

IgD型多发性骨髓瘤的研究进展

多发性骨髓瘤起源于浆细胞,是一种分泌单克隆免疫球蛋白或轻链（M蛋白）从而导致相关器官或组织损伤的恶性肿瘤。IgD型多发性骨髓瘤是极少见的一种骨髓瘤类型,目前根据国外报道IgD型MM约占所有类型骨髓瘤的2%,国内报道发生率则为4%~8%,预后相对较差。关于IgD型MM的临床特点、治疗以及生存情况等国内尚无大样本的研究。故本文是针对IgD型多发性骨髓瘤患者的临床特点、治疗疗效、生存及预后进行综述,目的是加强对该类型多发性骨髓瘤生物学特性的认识,帮助临床医生在疾病诊疗过程中做出正确的决策及个体化治疗,从而提高患者预后。     

IgDκ型多发性骨髓瘤一例报道

多发性骨髓瘤（multiple myeloma,MM）是一种单克隆浆细胞异常增生好发于中老年的恶性疾病。本病约占恶性疾病的1％,占血液系统肿瘤的10％^[1]。增生的浆细胞产生结构均一的单克隆免疫球蛋白。IgD型MM非常罕见,仅占MM病例的1％～2％^[2],而κ型约占IgD型MM的10％-30％。现报道1例IgDκ型多发性骨髓瘤病例。     

以胸腔积液为首发症状的多发性骨髓瘤1例

患者男 ,5 7岁 ,间断腰腿疼痛半年余 ,未行系统检查和治疗。入院前 1个月感头晕、乏力、气短不能平卧 ,伴右侧胸背部疼痛明显 ,于 2 0 0 1年 10月 2 2日入院。查体 :重度贫血貌 ,胸、肋骨均有压痛 ,右肺第 6肋以下叩诊实音 ,语颤明显减低 ,呼吸音消失 ,左肺呼吸音清。实验室检查 :血常规及肝、肾功能无明显异常 ,血沉加快。尿蛋白 ( ) ,尿Bence Jones蛋白阴性。 X线胸片 :右侧大量胸腔积液 ,右侧第 7肋病理性骨折 ,头颅及骨盆片未见骨质破坏。骨髓检查 :骨髓增生活跃 ,G=0 .340 ,E=0 .30 0 ,粒系比例减低 ,以晚幼粒以下阶段细胞为主 ,红…     

以急腹症为首发表现的多发性骨髓瘤1例报告

1 病例报告 患者,男,61岁,退休工人。患者于人院前半月出现腹部不适,偶有腹胀,无恶心、呕吐及腹痛、腹泻,未引起注意。1天前晚饭后突发中上腹疼痛、呕吐大量胃内容物,并进行性加重,大便1次,黑色软便,量约200 ml,不伴畏寒、高热及少尿、腰痛。平素嗜烟酒40年。查体:体温37.8℃,脉搏104次/min,呼吸24次/min,血压160/85 mmHg;急性病容,轻度贫血貌,心肺无异常;腹部膨隆,腹肌较紧张,全腹压痛、反跳痛,未触及包块,肝脾肋下未触及,移动性浊音可疑,肠鸣音偶可闻及。血象:WBC 15×10~9/L,RBC 3.52×10~12/L,Hb 85 g/L,PLT 105×10~9/L;出凝血时间正常;尿常规蛋白++;大便潜血+;ECG正常。腹腔穿刺抽出少量血性腹水。考虑“弥漫性腹     

以血小板减少为首发症状的骨髓增生异常综合征一例

患者 ,女 ,5 4岁 ,因双下肢瘀点于 2 0 0 2年 3月在我院就诊。既往体健 ,发病前无感染史、服药史和毒物接触史 ,家族中无类似患者 ;体检无肝、脾肿大。血常规 :WBC 5 .5× 10 9/L ,Hb 112 g/L ,BPC 6 1× 10 9/L ,中性粒细胞 0 .6 4 ,淋巴细胞0 .35 ,单核细胞 0 .0 1。骨髓检查示增生明显活跃 ,粒、红比为2 .4 6∶1,粒系 0 .5 8,红系 0 .2 3,淋巴细胞 0 .16 ,巨核细胞 >2 0 0个 /片 ,颗粒型巨核细胞比例明显增高 ,并可见典型小巨核细胞 ,红系偶见类巨幼变 ,粒系未见形态异常 ;肝、肾功能正常 ,PAIgG阴性。予泼尼松 1mg/kg治疗 3个月 ,…     

以咽痛为首发表现的急性心肌梗塞1例

男，62岁。因咽痛5d，加重伴头晕、头痛4h于2004-08-20入院。5d前无明显诱因出现咽痛，呈持续性，与吞咽、进食无关，劳累时加重，无咳嗽、咯痰、咯血、发热．无胸闷、心悸、心前区疼痛，就诊于当地医院耳鼻喉科．间接喉镜检查示咽部无充血，扁桃体Ⅰ度肿大，予新磺片、银黄含化片等治疗．症状无改善。入院前4h于行走时出现头晕、头痛、全身乏力、大汗淋漓、恶心等症状，来院急诊，     

以尿崩症为首发表现的艾滋病2例

例1,男,20岁,因多饮、多尿9月,发热、消瘦6月于2000年9月入院。近9月每天饮水约3000ml,每天尿量约5000ml,近6月有不规律性发热,体温多波动于37～38度,体重下降约15kg,自服“中药”疗效不佳。入院查体:T:37.8度,P:90次/分,R:20次/分,BP:90/60mmHg,一般情况差,中度贫血貌,全身浅表淋巴结未触及,心、肺(-),舟状腹,肝脾未触及。血常     

以肾损害为首发表现的POEMS综合征1例

患者女 ,41岁。于 2 0 0 0年 1月 18日入院。 1年前发现腰酸 ,泡沫尿 ,查尿蛋白( )。 2个月后出现双下肢水肿 ,伴趾端麻木 ,灼痛 ,并渐向近端蔓延。拟“周围神经炎”治疗无效。 5个月前双手指亦感麻木灼痛 ,且四肢肌肉进行性萎缩 ,肌力下降至足不能行走、手不能持物。疑诊“重症肌无力” ,予强的松 3 0ｍｇ/ｄ ,水肿消失 ,灼痛、乏力减轻 ,服药 1个半月后自行停药。 2周后双下肢无力、水肿再次加重 ,伴视物不清 ,腹胀纳差 ,尿少。发病以来体重减轻 ,闭经、多汗及间歇性低热。查体 :Ｔ 3 7 2℃ ,ＢＰ 12 0 /80ｍｍＨｇ ,神清萎靡 ,全身多…     

Cardiac amyloidosis in a patient with multiple myeloma: A case report and review of literature

We report a case of a 52‐year‐old man with multiple myeloma and rapidly progressive heart failure who died unexpectedly from a probable arrhythmia. Postmortem examination revealed infiltrative amyloid cardiomyopathy, a rare cause of predominantly diastolic myocardial disease. Cardiac amyloidosis should be considered in any patient presenting with congestive heart failure, preserved systolic function, and a discrepancy between a low QRS voltage on electrocardiography and an apparent left ventricular hypertrophy on sonogram. The pattern of left ventricular diastolic dysfunction changes during the course of amyloidosis and the classically described restrictive physiology occurs only in advanced stages of the disease. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2009     

IgD型多发性骨髓瘤临床特征、新药治疗效果及预后分析

目的 探讨IgD型多发性骨髓瘤（multiple myeloma, MM）患者的临床特征、治疗、生存及预后影响因素。方法 回顾性分析2013年6月至2021年9月复旦大学附属中山医院血液科收治的25例IgD型MM患者的病例资料。分析患者的基线特征、实验室检查及细胞遗传学指标;根据国际骨髓瘤工作组（International Myeloma Working Group,IMWG）诊断标准评估疗效。采用Kaplan-Meier方法进行生存分析,采用log-rank检验进行单因素分析,将P<0.15的变量纳入多因素Cox回归分析。结果 25例IgD型MM患者中男性17例（68%）,21例（84%）年龄低于65岁,λ轻链型24例（96%）;DS分期Ⅲ期21例（84%）,国际分期系统（International Staging System,ISS）分期Ⅲ期12例（48%）;荧光原位杂交(fluorescence in situ hybridization,FISH）结果显示77.3%(17/22)患者存在细胞遗传学异常,以1q21扩增（14例,63.6%）和IgH重排（9例,40.9%）...     

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.     

Plasmacytoma of the large bowel: A review of the literature and a case report of multiple myeloma involving the rectosigmoid

Large bowel involvement is a rare manifestation of plasma cell tumors, especially in association with multiple myeloma. A review of the world literature reveals only 21 reported cases, the majority of which are classified as the solitary form of the disease. A case of multiple myeloma with rectosigmoid involvement is herein presented, and the radiological findings of reported cases are summarized.     

Respiratory manifestation of yellow nail syndrome: a case report and literature review

Yellow nail syndrome (YNS) is a rare disorder, and diagnosis is based on the clinical findings and the exclusion of other possible causes; the pathogenesis is poorly understood. YNS can be an isolated condition or associated with other diseases; however, YNS associated with multiple myeloma (MM) is rare. A 53-year-old male patient presented with coughing and shortness of breath, and he was diagnosed with YNS with MM. He underwent chemotherapy and achieved a good response. Although the etiology of YNS remains unknown, treating the underlying disease may help prevent or relieve the clinical signs.     

Isolated coagulopathy without classic CRAB symptoms as the initial manifestation of multiple myeloma: A case report

BACKGROUNDMultiple myeloma patients usually present with CRAB symptoms (hypercalcemia, renal disease, anemia and bone diseases) as initial manifestations. Bleeding symptoms are less common, most of which result from thrombocytopenia or infiltration of plasmacytoma. Relatively, coagulopathy is not so common, especially isolated coagulopathy without CRAB manifestations, which is very rare. Herein, we report a 54-year old female who was hospitalized for intermittent and recurrent mild oral mucosal hemorrhage without other bleeding symptoms for almost one month or typical myeloma features.CASE SUMMARYTwo months before admission, the patient underwent implantation of a permanent pacemaker due to sick sinus syndrome. Prothrombin time and activated partial thromboplastin time were significantly prolonged. Factor X deficiency was demonstrated to account for the coagulation dysfunction. An M protein peak was shown by serum protein electrophoresis. 26.11% of abnormal plasma cells were detected in bone marrow by flow cytometry, expressing CD38, CD138, CD56 and intracellular immunoglobulin Kappa light chain. Bone marrow biopsy also proved the presence of abnormal plasma cells, but Congo red stain was negative. The patient was finally diagnosed with multiple myeloma IgA-κ type. A literature review indicated that factor X deficiency was highly related to amyloidosis. Before bleeding signs, the patient had cardiac arrhythmia, enlargement of the heart, and progressive heart failure; thus, cardiac amyloidosis was suspected.CONCLUSIONBleeding related to coagulation dysfunction is uncommon in multiple myeloma, especially as the initial manifestation. Amyloidosis is a well-recognized cause of isolated acquired factor X deficiency.     

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs. The weakness slowly progressed to lower proximal legs and upper arms last 6 months. Whole‐exome sequencing revealed that the patient harbored two heterozygous gene mutations, including a novel insertion mutation c.*1037_*1038CACACACACACACACACACACA and c.C478T in exome 12 and 3 of the GNE gene ({"type":"entrez-nucleotide","attrs":{"text":"NM_001128227","term_id":"1677530972"}}NM_001128227), respectively. The levels of serum sialic acid in this patient were considerably decreased. Muscle MRI imaging showed the anterior and medial parts of his quadriceps were heavily affected by this disease. Hematoxylin and eosin staining showed prominent rimmed vacuoles with a lack of inflammatory response in the atrophied muscle. We also undertook a review of the current literature, searching for reports in which the GNE gene mutation caused the thrombocytopenia with or without muscle weakness. This new gene mutation finding broadens the GNE disease genotype spectrum, and further investigation of the relationship between GNE gene mutations and the heterogeneity of its clinical manifestations is needed.