Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.

We report the biochemical and molecular characterization of two new transthyretin (TTR) variants in two Italian families with hereditary amyloidosis. Both families presented neuropathy and cardiomyopathy but they differ in other clinical features. These TTR variants were previously detected by isoelectric focusing (IEF); one is a neutral TTR variant and the other one is basic. By protein and DNA analysis the neutral variant was found to have a substitution of an alanine for a threonine residue at position 49 (TTR Ala-49) of the polypeptide chain. The basic variant has a glutamine residue replacing glutamate at position 89 (TTR Gln-89).     

二尖瓣环位移自动追踪技术评价心脏淀粉样变性患者左心室收缩功能

目的 探讨组织运动二尖瓣环位移自动追踪(TMAD)技术评估心脏淀粉样变性(CA)患者左心室收缩功能的临床价值。方法 收集经心外组织活检证实的CA患者21例(CA组)及年龄匹配的健康志愿者26名(对照组),行常规超声心动图检查并存储心尖四腔心切面二维图像,以Simpson法测量左心室射血分数(LVEF),采用QLab 8.1工作站自动获取二尖瓣环位移(MAD)后室间隔瓣环插入点最大位移(MAD_sep)、侧壁瓣环插入点最大位移(MAD_lat)、瓣环连线中点的最大位移(MAD_mid)以及MAD_mid占舒张期左心室长径的百分比(MAD_mid%);分析CA患者各MAD参数与LVEF的相关性。结果 CA组LVEF、MAD_sep、MAD_lat、MAD_mid及MAD_mid%均低于对照组(P均<0.001);CA组MAD_sep、MAD_lat、MAD_mid及MAD_mid%与LVEF均呈正相关(P均<0.001),以MAD_mid%与LVEF相关性最好(r=0.840)。结论 TMAD是一种简单、准确、客观评价CA患者左心室收缩功能的新方法。     

Computed tomography imaging features for amyloid dacryolith in the nasolacrimal excretory system: A case report

BACKGROUNDNasolacrimal duct obstruction leading to epiphora is a common ophthalmologic complaint, and it may derive from amyloidosis in rare cases. There are a few reports about localized amyloidosis, and amyloidosis with involvement and obstruction of the nasolacrimal duct is exceedingly rare. CASE SUMMARYA 54-year-old male presented with a 2-year history of a lump overlying the left lacrimal sac that had grown rapidly for nearly half a year. Physical examination touched a firm lump in the left lacrimal sac. Nasal endoscopy discovered lesions in appearance of sediments with easy bleeding at the entry of the nasolacrimal duct of the left inferior nasal meatus. Computerized tomography scan revealed speckle high density in the left lacrimal sac and the dilated nasolacrimal duct. During an endoscopic exploration and excision, a large number of dacryoliths were exposed. Pathology indicated amorphous pink material and multinucleated giant cell reaction in the fibrous tissue.CONCLUSIONThis case showed amyloidosis in localized form mimicking dacryolith with nasolacrimal duct obstruction. In clinical practice, we should be aware of the possibility of localized amyloidosis in the nasolacrimal excretory system.     

Primary exophytic laryngeal amyloidosis presenting as sudden airway obstruction

Primary amyloidosis of larynx is an uncommon phenomenon, the precise etiopathogenesis of which is not yet clear. It can present with slowly increasing hoarseness or difficulty in breathing. It presents more commonly as infiltrative lesion, exophytic presentation is a rare occurrence.     

意义未明的单克隆免疫球蛋白血症的病程演变、鉴别诊断及其干预策略:第54届美国血液学会年会报道

 【摘要】　意义未明的单克隆免疫球蛋白血症（monoclonal gammopathy of undetermined significances,MGUS）被界定为癌前克隆性疾病。其在50岁以上人群中的发病率达到4.2 %,且以每年1 %的高风险向多发性骨髓瘤（multiple myeloma,MM）和相关的恶性疾病转化。确定其病程演变将指导临床诊断和治疗。大多数MGUS患者仅需随访观察。而少部分患者则经过冒烟型骨髓瘤（smoldering multiple myeloma,SMM）阶段进展为MM,或者因M蛋白导致终末器官损害,发展为轻链型疾病,如轻链型淀粉样变性、轻链沉淀病等,需要启动药物干预措施。2012年第54届美国血液学会（ASH）年会进行了这部分内容的详细报道。     

Monoclonal Gammopathies After Renal Transplantation: A Single-center Study

IntroductionPlasma cell disorders (PCDs) are clonal plasma cell disorders that include conditions such as monoclonal gammopathy of undetermined significance (MGUS), monoclonal gammopathy of renal significance (MGRS), multiple myeloma (MM), smoldering MM (SMM), solitary plasmacytoma, and light-chain (AL) amyloidosis. The risk factors associated with and the clinical course of PCDs after renal transplantation is not well established although immunosuppressive protocols may impact the incidence and natural history of PCDs posttransplant.Patients and MethodsThis single-center retrospective study evaluated patients with a history of renal transplant who developed a PCD between January 1, 2014-December 31, 2018.ResultA total of 41 patients met the inclusion criteria including 29 with MGUS and 12 with symptomatic PCD (4 with MM, 2 with SMM, 4 with MGRS, 1 with AL amyloidosis, and 1 with solitary plasmacytoma). The median follow-up of survivors was 41.6 months. Three patients (1 with MGUS and 2 with MGRS) progressed to MM during the follow-up period. There was a male preponderance in both groups. There was no correlation between the donor and immunosuppressive regimen and the development of a PCD. Patients with symptomatic PCD had higher serum creatinine and M-protein levels at diagnosis and higher free light chain ratio and plasma cell burden. There was also a higher percentage of allograft failure noted in the symptomatic PCD subset 50% (n = 6), whereas only 23% (n = 7) of patients had allograft failure in the MGUS group.ConclusionThis study shows the importance of considering monoclonal gammopathy in the differential of renal dysfunction after kidney transplant and the need to follow these patients closely to monitor for progression to symptomatic PCD.     

玻璃体切割术治疗玻璃体淀粉样变性的疗效分析

背景 玻璃体淀粉样变性属于常染色体显性遗传性眼病,常导致患者视力下降而影响其生活质量,目前其主要治疗方法为玻璃体切割术,但中国对其手术疗效的分析少有报道. 目的 观察并分析玻璃体切割术治疗玻璃体淀粉样变性的疗效.方法 对2011年3月至2013年2月在贵州医科大学附属医院行玻璃体切割术的玻璃体淀粉样变性患者6例11眼的临床资料进行回顾性分析,观察患者术前及术后1周、6个月、2年的最佳矫正视力(BCVA)、眼压、裂隙灯显微镜检查和眼底表现,以及术后1周、6个月术眼荧光素眼底血管造影(FFA)表现.患眼玻璃体切割标本行刚果红染色,观察其病理学表现.结果 术前5眼视力为数指/30 cm,6眼视力为手动/30 cm,眼压为(13.09±2.12)mmHg(1 mmHg=0.133 kPa),裂隙灯显微镜下可见玻璃体内固定的白色絮状混浊物,晶状体后囊有白色膜状物附着.术后1周、6个月及2年,7眼BCVA为1.0,4眼为0.8.术后1周、6个月及2年术眼眼压分别为(13.32±2.07)、(14.09±2.47)和(12.32±1.87) mmHg.术后1周11眼FFA可见周边视网膜血管局部荧光素渗漏,术后6个月FFA检查未见明显异常.2例4眼术后2年可见周边视网膜表面白色淀粉样物质增多,BCVA无明显下降.术眼玻璃体切割标本经刚果红染色证实为淀粉样变性.结论 玻璃体切割术是治疗玻璃体淀粉样变性的有效方法,能有效改善患眼视力.术后远期周边部视网膜可出现复发病灶,但不影响患眼视力.