Striking cholestatic liver disease: a distinct manifestation of advanced primary amyloidosis

In patients with systemic amyloidosis, amyloid fibrils are typically deposited in numerous organs, including the kidneys, heart, and liver. Although amyloid deposition in the liver is common in patients with systemic amyloidosis, clinical liver disease is relatively rare. The patient described here had cholestatic liver disease as the primary manifestation of primary systemic amyloidosis. Review of the literature suggests that prominent liver disease with cholestasis is unusual but probably underreported in patients with amyloidosis and appears to be restricted to patients with the primary form of amyloidosis. Nonetheless, cholestatic hepatic amyloidosis is characterized by distinct clinical, laboratory, and pathologic features; recognition of this process is critical because it identifies patients with widespread organ involvement and portends a poor prognosis.     

Preclinical development of siRNA therapeutics for AL amyloidosis

Amyloid light chain (AL) amyloidosis is a rare hematologic disorder characterized by the accumulation of a misfolded monoclonal immunoglobulin (Ig) light chain (LC) as fibrillar protein deposits. Current treatments, including cytotoxic chemotherapy and immunomodulatory therapy, are directed at killing the plasma cells that produce the LCs, but have significant toxicity for other cell types. We have designed small interfering RNAs (siRNAs) targeting the amyloidogenic LC messenger RNA (mRNA) in order to reduce expression of the amyloid precursor protein. Using nanomolar concentrations of siRNAs, we have inhibited synthesis of LC in transfected cells in vitro in a dose-dependent fashion. Furthermore, in an in vivo plasmacytoma mouse model of AL amyloidosis, we have demonstrated that these siRNAs can significantly reduce local production and circulating levels of LC. This model system highlights the therapeutic potential of siRNA for AL amyloidosis.     

缺血性结肠炎的超声图像表现

目的探讨缺血性结肠炎的超声图像特点以及超声诊断价值。方法使用3.5~5.0MHz腹部探头和7.0~14.0MHz高频超声对12例因急性腹痛、便血患者行二维基波、自然组织谐波和彩色多普勒超声检查,分析结肠肠壁增厚的部位、范围、壁厚和彩色多普勒血流等声像图特征。结果全部病例经结肠镜或临床治疗监测、随访证实,超声定位符合率100%(12/12),其中病变累及右半结肠1例(8.4%),左半结肠7例(58.4%),横结肠2例(16.6%),脾曲2例(16.6%)。增厚结肠壁的长度范围10.0~20.0cm(平均15.0cm),壁厚0.5~2.0cm(平均1.3cm),病变呈均匀、全周性增厚。CDFI全部病例肠系膜上动静脉内未见血栓,4例(33.3%)增厚结肠壁间有少量彩色血流信号,8例(66.7%)未见彩色血流信号。结论超声对病变的分布、范围、肠壁厚度、彩色血流等做出正确的判断,超声对缺血性结肠炎的诊断和随访、监测对临床有重要帮助。     

系统性轻链型淀粉样变性细胞遗传学异常检测分析

目的研究系统性轻链型(AL)淀粉样变性患者的细胞遗传学特征。方法收集初诊系统性AL淀粉样变性患者24例和多发性骨髓瘤(MM)患者135例,通过CD138磁珠分选(MACS)结合间期荧光原位杂交(FISH)技术检测系统性AL淀粉样变性和MM患者的细胞遗传学异常,比较二者细胞遗传学异常差异。分析系统性AL淀粉样变性FISH异常与血清游离轻链(sFLC)、N端脑钠肽前体(NT-proBNP)、B型脑钠肽前体(proBNP)、血清肌钙蛋白(cTnT和cTnI)及器官累及之间的关系。结果系统性AL淀粉样变性细胞遗传学异常阳性率为62.5%,其中14q32异位、t(11;14)和+1q21发生率较高,分别为41.7%、37.5%和29.2%。系统性AL淀粉样变性细胞遗传学异常总阳性率、del(13/13q14)缺失率及并存大于或等于3种遗传学异常的发生率均显著低于MM患者,差异有统计学意义(P0.05),而t(11;14)发生率显著高于MM,差异有统计学意义(P0.05)。系统性AL淀粉样变性细胞遗传学异常与临床相关检测指标及器官累及无显著关系(P0.05)。结论 MACS-FISH可用于检测系统性AL淀粉样变性患者的细胞遗传学异常。系统性AL淀粉样变性患者14q32异位、t(11;14)、+1q21有较高的发生率,t(11;14)发生率显著高于MM患者,而并存大于或等于3种细胞遗传学异常和del(13/13q14)发生率显著低于MM患者。     

Hypocalcemic tetany in the newborn as a manifestation of unrecognized maternal primary hyperparathyroidism

Primary hyperparathyroidism (PHP) during pregnancy is a very rare event that increases maternal and perinatal morbidity and mortality. We present a case in which hypocalcemic tetany of the neonatal infant - caused by transient hypoparathyroidism in the child - finally revealed asymptomatic maternal PHP. An apparently healthy 30-year-old woman had an uneventful pregnancy and delivery. On the 15th postpartal day, the newborn developed hypocalcemic tetany. After receiving supplementation of calcium and vitamin D, the child developed without further pathological findings. Laboratory and radiological studies in the mother led to a diagnosis of maternal PHP. An adenoma of the right lower parathyroid gland was subsequently removed. The search for the cause of hypocalcemia in a newborn should not focus on the patient alone. Examining the apparently healthy mother and approaching the case in a multidisciplinary fashion may benefit both the child and the mother.     

MRI of primary amyloidosis

In a patient with primary amyloidosis, we compared T2 values and relative signal intensity ratios of involved organs to those of normal patients. T2 was significantly decreased in the spleen and adrenals, while significantly increased in the pancreas. T2 values were insignificantly changed in the liver, subcutaneous fat, bone marrow, or kidney. Ratios may facilitate detection of relative changes in T2 values.     

序贯化疗系统性免疫球蛋白轻链型淀粉样变性肾病1例

阐述1例AL型淀粉样变性肾病的男性患者,以浮肿、少尿、腹胀、低蛋白血症、高脂血症、大量蛋白尿为主要临床表现,经肾脏穿刺病理活检确诊.经过序贯使用"CBD"、"TCD"化疗方案治疗,患者病情好转,现取得很好的部分缓解的疗效.本文就AL型淀粉样变性肾病的诊治、预后评估等方面进行探讨.