多发性骨髓瘤的诊断与鉴别诊断

多发性骨髓瘤 (MM)的临床表现多样化 ,可以某一系统损害表现为主 ,或以 MM并发症为首发症状 ,尤其是早期MM,临床症状较轻 ,易被忽视。因此 ,遇有中年以上患者临床上出现原因不明的贫血、血沉快、骨痛或病理性骨折、蛋白尿、肾功损害、反复感染、感觉运动性周围神经病变、难治性心衰、高丙种球蛋白血症等表现之一时 ,应引起高度警惕 ,进行有关检查。1　诊断1.1　早期 MM　诊断较难 ,有人称其为“冒烟型” MM(smoldering　 myeloma,SM)。此时可无贫血、肾损害、骨质破坏 ,血钙正常 ,但血清单克隆 Ig G>35 g/L,骨髓中浆细胞≥ 10 % ,但 <…     

肝豆状核变性31例误诊原因分析

肝豆状核变性又称 Wilson病 ,其临床虽不少见 ,误诊率较高。现将近 10年来我们对 31例本病患者的误诊情况进行分析。临床资料 :本组男 19例 ,女 12例 ;年龄 6～ 14岁。有肝病家族史者 2例 ,均无明确肝豆状核变性家族史。发病至确诊时间为 3个月至 5年余。以肝脏损害为首发症状者 13例 ,表现为腹胀、腹水 9例 (伴发热、腹痛 2例 ,双下肢浮肿 7例 ) ,肝肿大 13例 ,脾肿大 11例 ,黄疸 11例 ,肝昏迷 2例 ,消化道出血 1例 (死亡 )。以肾脏损害为主要症状者 7例 ,表现为明显血尿、蛋白尿、浮肿 ,同时伴有不同程度的肝损害。以神经系统损害为首发…     

以心力衰竭症状为首发表现的多发性骨髓瘤12例临床分析

目的 探讨以心力衰竭症状为首发表现的多发性骨髓瘤的临床特征及其预后.方法 回顾性分析中山大学附属第一医院2003-01-01-2008-07-31入院的12例以心力衰竭为首发表现的多发性骨髓瘤(MM)的病例资料及预后.结果 12例以心力衰竭为首发表现的患者中男9例,女3例.年龄48～69岁,平均(58.4±5.2)岁.12例患者均因不同程度的胸闷气促入院,其中伴贫血10例,蛋白尿9例.心电图示:肢导低电压者8例;R波进展不良和ST-T改变患者6例.超声心动图示左心房增大(41.6±4.2)toni 10例;室间隔和左室壁均明显增厚伴室壁运动弥漫性减弱8例.平均随访(4.0±3.7)个月,12例患者均死亡.结论 MM以心力衰竭为首发表现在临床上较少见,但其病情进展快,预后差.对于合并贫血、蛋白尿等多系统器官受累时要高度怀疑本痛.血浆前脑钠肽(pro-BNP)N端和心脏肌钙蛋白水平是MM患者预后判断的敏感标志物.     

38例艾滋病患者消化系统表现的临床分析

目的总结38例艾滋病患者相关消化系统表现的临床特点,以提高对消化道症状为首发表现的艾滋病的临床诊断。方法回顾性分析了2003年11月至2008年6月38例以消化系统损害为主要表现的艾滋病患者的临床资料。结果艾滋病相关消化系统疾病中口咽部和胃肠道病变发生率为27例（71．1％）,肝胆胰病变发生率为24例（63．2％）,表现为腹泻、腹痛、肝脾肿大等消化道症状,伴随发热、消瘦、浅表淋巴结肿大等表现。结论艾滋病临床表现复杂多样,消化系统是最常见累及的系统之一。临床医师接诊消化道症状突出的患者时,对伴随有发热、消瘦的患者应警惕艾滋病可能性,并作相应检查。     

多发性骨髓瘤76例临床分析

回顾性分析76例多发性骨髓瘤（MM）患者的临床资料。发现首发症状以骨痛、贫血较多；肾功能不全患者中50岁以上患者占多数；骨质疏松60例，溶骨性破坏50例；采用M2、MP、VAD方案化疗疗效无统计学差异；42例死亡患者确诊后中位生存期为35个月。提示MM早期临床表现复杂多样，缺乏特异性，易误诊、漏诊。中老年患者如出现不明原因的蛋白尿、贫血、骨骼疼痛等临床表现应警惕MM的可能。     

以门静脉高压所致消化道出血为首发症状的多发性骨髓瘤1例报告

门静脉高压是指门静脉和下腔静脉之间的压力梯度增加超过5 mm Hg[1],是一种常见的临床综合征,主要表现为脾大、腹水、胃食管静脉曲张引起的消化道出血等。肝硬化是门静脉高压症最常见的原因,非肝硬化门静脉高压症临床少见,且病因多样。现报道1例反复以消化道出血、脾大就诊,影像学检查提示有门静脉高压而无肝硬化表现,骨穿后最终确诊为多发性骨髓瘤(MM)患者。MM以门静脉高压所致消化道出血为首发症状者少见,应引起临床重视。     

以黄疸为首发症状的多发性骨髓瘤1例并文献复习

目的：总结多发性骨髓瘤（ MM）以黄疸首发者的诊治经验。方法回顾性分析1例以黄疸为首发症状的多发性骨髓瘤患者的临床资料,并复习相关文献资料。结果患者因黄疸1个月入院,肝功能检查异常,骨髓穿刺示骨髓增生活跃,骨髓瘤细胞占24％。给予VAD方案（长春新碱、表柔比星、地塞米松）化疗1个周期后,黄疸明显减轻;1周后突发肝衰竭死亡。结论对有明显肝功能受损的MM患者,应及时行骨髓穿刺以明确诊断,治疗以化疗为主,预后较差。     

以神经系统外表现为首发症状的肝豆状核变性30例误诊分析

肝豆状核变性 (HL D)首发症状为神经系统外表现时 ,极易误诊。 1991年 3月至 2 0 0 3年 3月 ,我们收治首发症状为神经系统外表现的 HL D误诊患者 30例。现报告如下。临床资料 :HL D患者 30例 ,男 18例 ,女 12例 ;年龄 6～4 8岁 ;病程 1～ 4 8个月。有家族史 17例 ,肝病史 3例 ,父母近亲结婚 6例。首发症状及误诊疾病 :118例以肝损害症状起病 ,表现黄疸、肝肿大、脾肿大、腹水 ,误诊为慢性迁延性肝炎10例 ,肝硬化、布 -卡氏综合征各 4例。 2 6例以肉眼血尿、面部及双下肢浮肿、蛋白尿起病 ,误诊为急性肾炎 2例 ,慢性肾炎、肾病综合征、Ig…     

以胸腔积液为首要表现的多发性骨髓瘤患者9例临床分析

<正>多发性骨髓瘤(MM)多仅累及骨髓,以胸腔积液为主要表现的MM临床上少见,容易被忽视。本文分析以胸腔积液为首发表现的MM患者的临床特点。1对象与方法1.1对象2009年1月至2011年7月我院呼吸内科住院患者中以胸腔积液为首发表现确诊为MM的患者9例,男6例,女3例,平均63岁,50~59岁5例,60~69岁1例,70~79岁3     

以腹泻为表现的原发性肝癌25例临床分析

原发性肝癌 (下称肝癌 )患者肝区疼痛、乏力、纳差、消瘦、肝脾肿大、腹水等是最具有特征性的临床表现 ,以腹泻为首发症状者比较少见。 1996年 7月至 2 0 0 2年 7月 ,我院收治以腹泻为表现的肝癌 2 5例。现分析如下。临床资料 :本院同期经影像学、生化检查及手术确诊的肝癌患者 5 0 0例 ,其中以顽固性腹泻为首发症状者 2 5例 ,男 2 0例 ,女 5例 ;年龄 35～ 70岁 ,平均 5 5 .5岁 ,病史 2周至 5个月。AFP>4 0 0 ng/ ml者 17例。经血管造影确诊 10例 ,经 CT或 B超引导下穿刺病理证实 10例 ,合并消化道大出血急诊手术确诊 2例 ,外科手术确诊 …     

Plasma cell neoplasia with osteosclerotic lesions. A study of five cases and a review of the literature.

Sixty-eight patients with plasmacytic neoplasia and osteosclerotic lesions were analyzed. Men predominated in this series. Mean age was 55.3 years and 26 patients were younger than 51 years at diagnosis. Early onset of disease was statistically different from multiple myeloma in general. Thirty patients had peripheral polyneuropathy and often neurological manifestations preceded other symptoms. Skeletal pain was less common, whereas hepatomegaly, splenomegaly, and lymphadenopathy were more common than in myeloma in general. Incidence of azotemia, hypercalcemia, high ESR, and anemia was lower than in myeloma. In one fourth of the patients, the number of skeletal lesions did not exceed three. Mean survival was less than 20 months from first symptom and 12 months from diagnosis. Mortality was related sometimes to polyneuropathy. Thus, in several aspects, plasmacytic neoplasia with osteosclerotic lesions is different from the classical multiple myeloma.     

Clinical manifestations of visceral leishmaniasis associated with HIV infection: a retrospective study of 91 French cases

A retrospective study was conducted in France to determine the clinical features of visceral leishmaniasis (VL) seen, between 1986 and 1997, in 91 patients co-infected with human immunodeficiency virus (HIV). Fever (87% of patients), splenomegaly (74%) and hepatomegaly (49%) were common, 43% of the patients having all of these signs and only 9% having none of them. Amastigotes were reported in atypical locations in 31 (34%) of the patients, and 15 patients had only had their VL diagnosed following accidental discovery of amastigotes in samples from their digestive tract and lungs (one), digestive tracts only (11 patients), lungs only (two), or skin (one). Some of the digestive symptoms observed are probably attributable to the intestinal infections with Leishmania. Overall, VL diagnosis was fortuitous in 27% of the subjects. Even in endemic areas, therefore, VL is not considered routinely by physicians attempting diagnoses.     

Gastrointestinal manifestations of amyloidosis

Amyloidosis is characterized by extracellular deposition of abnormal protein. There are six types: primary, secondary, hemodialysis-related, hereditary, senile, and localized. Primary (AL) amyloidosis is associated with monoclonal light chains in serum and/or urine with 15% of patients having multiple myeloma. Secondary (AA) amyloidosis is associated with inflammatory, infectious, and neoplastic diseases. The presentation is protean, including macroglossia, a dilated and atonic esophagus, gastric polyps or enlarged folds, and luminal narrowing or ulceration of the colon. Amyloid deposition in the gastrointestinal (GI) tract is greatest in the small intestine. The symptoms include diarrhea, steatorrhea, or constipation. Pseudo-obstruction carries a particularly grave prognosis, often not responding to promotility agents. Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level. Biopsies to diagnose amyloidosis can be taken from the fat, kidney, intestine, or bone marrow. The safety of liver biopsies is controversial. With Congo Red stain, amyloid appears red in normal light and apple-green in polarized light. Treatment for AL amyloidosis is chemotherapy and stem cell transplantation; treatment for AA amyloidosis is control of the underlying disease. Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and GI symptoms.     

Cholesterol crystal embolization demonstrated on GI biopsy

OBJECTIVES: Cholesterol crystal embolism is a severe complication of atherosclerosis responsible for nonspecific cutaneous, renal, and, less often, digestive manifestations that may mimic other systemic diseases. METHODS: We reviewed retrospectively 10 patients with histologically proven cholesterol crystal emboli diagnosed by endoscopic GI biopsy. RESULTS: All patients had prior clinical manifestations of severe atherosclerosis and predisposing factors for cholesterol migration. They all had cutaneous manifestations of cholesterol crystal embolism, acute renal failure, and biological inflammatory syndrome. Digestive symptoms were found in the 10 patients: abdominal pain in eight, diarrhea in four, and GI bleeding in three. GI endoscopy ruled out specific digestive diseases, showing only a congestive or erosive mucosa. Histological diagnosis of cholesterol crystal emboli was based on gastric biopsy in nine patients, duodenal biopsy in four, colonic biopsy in three, and rectal biopsy in one, with six having positive biopsies on multiple sites. Outcome after the diagnosis of cholesterol crystal embolism was poor, with all patients requiring permanent hemodialysis. Death by atherosclerosis complications occurred in five patients. CONCLUSIONS: This cohort suggests that upper GI endoscopy may be helpful in demonstrating the presence of cholesterol crystal embolism, and that diagnosis of cholesterol crystal emboli on digestive tract biopsy indicates advanced systemic atherosclerosis disease of poor prognosis.     

淀粉样变性患者临床特征分析

目的总结淀粉样变性患者的临床特征，指导临床相关诊疗。 方法回顾性分析北京佑安医院2009年1月至2017年12月期间收治的12例经病理活检确诊的淀粉样变性患者的临床资料，并进行总结分析。 结果12例淀粉样变性患者中，男9例、女3例，年龄范围39～70岁，平均(56±8)岁。临床表现方面：乏力5例、纳差4例、腹胀6例、腹痛6例、腹水6例、肝大6例、脾大4例。实验室检查方面：肝功能异常6例，转氨酶异常4例、胆红素升高4例、γ-谷氨酰转肽酶升高10例、碱性磷酸酶升高10例、低白蛋白血症8例、蛋白尿8例、血尿2例、贫血6例、肌酐增高8例。 结论淀粉样变性多见于男性，临床表现多样，多合并肝、肾功能损伤。该疾病主要通过病理活检确诊。     

Digestive anisakiasis: clinical manifestations and diagnosis according to localization.

OBJECTIVES: Digestive anisakiasis is a parasitic disease whose clinical manifestations depend on the effect of Anisakis simplex on the digestive tract wall. Larvae are acquired by eating raw or poorly cooked fish. It is estimated that this entity is currently under-diagnosed, although publications are becoming increasingly common. We analyse our series of digestive anisakiasis checking localization and studying its relationship with symptoms and method of diagnosis. PATIENTS AND METHOD: We review 23 cases of digestive anisakiasis registered between 1989 and 2001, and confirmed by the measurement of specific serum Ig E antibodies. We analyse clinical symptoms and method of diagnosis according to whether localization was gastro-duodenal or intestinal, evaluating whether surgical intervention was needed for a correct diagnosis. The statistical analysis is made using Fisher's test. RESULTS: 23 patients were included between 1989 and 2001, 8 with gastro-duodenal localization and 15 with intestinal localization. All patients with intestinal localization had abdominal pain. Symptoms were less severe for gastro-duodenal cases, and diagnosis was made by clinical suspicion and subsequent gastroscopy, whereas more than a half of intestinal cases required histological examination of a surgical specimen for correct diagnosis. In the remaining half, diagnosis was made by abdominal ultrasonography. We also observed that the need for surgery has decreased with time from 6/6 cases in the 1989-1996 period of time to 2/9 in the 1997-2001 period of time. CONCLUSIONS: Clinical manifestations of anisakiasis vary depending on localization, symptoms being more severe in intestinal forms. The diagnosis of gastro-duodenal anisakiasis did not need surgery and was based mainly on gastroscopy findings, whereas intestinal forms frequently required histological examination of the surgical specimen. In our hospital, a higher index of clinical suspicion allowed us to diagnose intestinal anisakiasis without examination of surgical specimens in the last years.     

以肺外表现为首发症状的结节病临床分析

目的提高对首发于肺外表现的结节病的认识。方法回顾性分析了２２例肺外结节病的临床资料，所有病例均有病理检查资料。结果６例患者的首发肺外表现为周围淋巴结肿大，５例为皮肤改变，２例为眼部症状，３例为腮腺结节病，３例为骨关节炎，１例为心脏结节病，１例为肝脾肿大，１例为神经精神症状。部分肺外结节病的胸部Ｘ线检查正常，血管紧张素转化酶亦在正常范围内。结论某些以肺外表现为首发症状的结节病可能尚处于疾病的早期阶段，故早期诊断和治疗有助于缓解肺外症状，提高治愈率     

Nephrotic syndrome in a patient with IgM myeloma with associated neutrophilia

An unusual case having IgM monoclonal gammopathy with clinical and pathologic features of multiple myeloma (MM) in association with neutrophilia and nephrotic syndrome is reported. The patient showed lytic bone lesions, decreased IgG and IgA levels, Bence-Jones proteinuria, nephrotic proteinuria with edema, and histological plasma cell infiltration typical of MM. Moreover, mature neutrophilic leukocytosis, hepatomegaly, high leukocyte alkaline phosphatase score (LAP), absence of Philadelphia (Ph) chromosome and bcr gene rearrangement were also evidenced, all these features representing findings typical of the recently described plasma cell dyscrasia-associated neutrophilia. After the diagnosis, the patient was treated with melphalan and prednisone, with an excellent response to the treatment. Different from the 30 cases so far reported, this is the first case of plasma-cell dyscrasia with associated neutrophilia due to IgM-producing monoclonal gammopathy. At the same time, this is the first reported case of nephrotic syndrome secondary to IgM myeloma.     

Importance of esophageal pH monitoring in the screening of gastroesophageal reflux in children

In the past 20 years the association between gastroesophageal reflux and otorhinolaryngological and/or respiratory affections became more evident by many studies. At the same time it is known that regurgitation, abdominal pain, growth retard, among others signs, could be generated by gastroesophageal reflux in infants, and when these signals are present the suspicious must be considered and they could be referred to perform pH studies. Sixty children were referred to our center to perform pH monitoring with gastroesophageal reflux suspicious, with digestive symptoms, respiratory problems or otorhinolaryngological manifestations. The patients were divided in two groups: the first, with 25 children, suffering from digestive manifestations. The second, 35 patients, including otorhinolaryngological or pulmonary symptoms. The children with digestive manifestations and with otorhinolaryngological or pulmonary symptoms were included in the first group. The pH analysis were considered positive for reflux when Boix-Ochoa Index (for 8 months of age or less) or DeMeester index (for 9 months or more) were above 11.99 or 14.72, respectively. The data were also compared to the results of scintigraphic studies for reflux or endoscopic findings in 22 patients. The pH monitoring test were positive in 62% patients with digestive manifestations. In the group with otorhinolaryngological or pulmonary symptoms the positivity was only 29%. In the group of children with both affections, the positivity was 66%. In patients that performed scintigraphic test or endoscopy, the pH test positivity were similar, 63%, without correlation if these other tests were positive or not. Patients with abnormal endoscopy or positive scintigraphic tests for gastroesophageal reflux presented 37% of positivity in pH test. We conclude that pH monitoring tests could be altered mainly when referred to investigate digestive manifestations when compared to primary otorhinolaryngological or pulmonary indications. Digestive endoscopy or scintigraphic study altered do not mean positive pH test and the inverse situation could be find too. Digestive symptoms coexisting with otorhinolaryngological or pulmonary afections do not increase the positivity frequency of the pH tests when compared with digestive manifestations exclusively.     

继发性淀粉样变的临床特点

目的：研究继发性淀粉样变的临床特点、治疗与预后。方法：对诊为继发性淀粉样变的全部住院病例进行回顾性临床分析。结果：在8例继发性淀粉样变病人中，其原发病分别为结缔组织病4例，多发性骨髓瘤3例，慢性乙型肝炎1例。由结缔组织病至继发淀粉样变平均6.2年，肾脏为其主要累及器官，表现为蛋白尿（4例），1例发生肾功能衰竭，以免疫抑制剂及/或激素治疗后，患者平均生存期长于10年。多发性骨髓瘤继发淀粉样变的时间较短，以舌组织及心肌受累为主，化疗效果差，病人的生存期平均不超过2年。而继发于慢性肝炎后的淀粉样变主要表现为胸腔积液与肝脾大，病情相对平缓。结论：淀粉样变可以继发于结缔组织病、多发性骨髓瘤或慢性炎性疾病，他们的起病时间、受累脏器以及临床表现差异很大，继发于多发性骨髓瘤的淀粉样变预后差，但结缔组织病继发的淀粉样变经积极有效的治疗可以明显改善预后。