Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes

Anna Clementi; Antonio Granata; Dinna N. Cruz; Giorgio Battaglia; Grazia Maria Virzì

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Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes

机译：携带家族性地中海热（FMF）和肿瘤坏死因子受体1综合征（TRAPS）基因突变的患者的继发性淀粉样变性

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Secondary amyloidosis (AA) is characterized by the extracellular tissue deposition of fibrils composed of fragments of an acute-phase reactant protein, serum amyloid A (SAA), due to chronic inflammatory diseases, infections and several neoplasms. AA amyloidosis may also complicate several hereditary diseases, where genetic factors play a pivotal role in the expression of amyloidosis. Familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) are the most frequently involved. We describe a case of a 21-year-old Romanian woman who presented at the 35th week of gestation with acute abdominal pain, nausea and vomiting. The laboratory workup performed after delivery showed proteinuria in the nephrotic range and increased SAA protein. Kidney amyloid deposits were detected and genetic testing for secondary amyloidosis was performed identifying two mutations, one involving the gene of FMF (MEFV), and the other involving the tumour necrosis factor receptor-1 gene (TNFRSF1A). To our knowledge, this is the first case in the literature where secondary amyloidosis develops in a patient carrying mutations involving the genes of both FMF and TRAPS.

机译：继发性淀粉样变性病（AA）的特征是由于慢性炎症性疾病，感染和几种肿瘤，由急性期反应蛋白，血清淀粉样蛋白A（SAA）片段组成的原纤维在细胞外组织沉积。 AA淀粉样变性也可能使几种遗传性疾病复杂化，其中遗传因素在淀粉样变性的表达中起关键作用。家族性地中海热（FMF）和肿瘤坏死因子受体1综合征（TRAPS）是最常见的。我们描述了一例21岁的罗马尼亚妇女，在妊娠第35周时出现腹部剧烈疼痛，恶心和呕吐。分娩后进行的实验室检查显示肾病范围内的蛋白尿和SAA蛋白增加。检测了肾脏淀粉样蛋白沉积物，并进行了继发性淀粉样变性病的基因检测，确定了两个突变，一个突变涉及FMF基因（MEFV），另一个突变涉及肿瘤坏死因子受体1基因（TNFRSF1A）。据我们所知，这是文献中首次发生继发性淀粉样变性的患者，该患者携带涉及FMF和TRAPS基因的突变。

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《Clinical kidney journal.》 |2013年第6期|共5页
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Anna Clementi; Antonio Granata; Dinna N. Cruz; Giorgio Battaglia; Grazia Maria Virzì;
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中图分类泌尿科学（泌尿生殖系疾病）;
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专利

1. Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes [J] . ClementiA., CruzD.N., GranataA., Clinical kidney journal . 2013,第6期

机译：携带家族性地中海热（FMF）和肿瘤坏死因子受体1综合征（TRAPS）基因突变的患者的继发性淀粉样变性
2. Early Onset of Periodic Fever Syndrome in a Patient Carrying Both Tumor Necrosis Factor Receptor Superfamily 1A and Mediterranean Fever Mutations [J] . Barbara KRASZEWSKA-G?OMBA, Zofia SZYMA?SKA-TOCZEK, Leszek SZENBORN Archives of rheumatology. . 2016,第3期

机译：同时携带肿瘤坏死因子受体超家族1A和地中海热突变的患者的周期性发烧综合征的早期发作。
3. A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus. [J] . Ida H, Kawasaki E, Miyashita T, Rheumatology . 2004,第10期

机译：一名患有系统性红斑狼疮的肿瘤坏死因子受体相关周期性综合征（TRAPS）的日本患者的编码肿瘤坏死因子受体超家族1A（TNFRSF1A）的基因中的新型突变（T61I）。
4. LACK OF CORRELATION BETWEEN AMYLOID A PROTEIN LEVELS AND CLINICAL PARAMETERS IN ASPIRATED FAT TISSUE OF FAMILIAL MEDITERRANEAN FEVER PATIENTS WITH SECONDARY AMYLOIDOSIS [C] . M Lidar, B P. Hazenberg, J Bijzet, International Symposium on Amyloidosis . 2008

机译：淀粉样蛋白蛋白质水平与家族地中海发热患者的吸气脂肪组织蛋白水平与临床参数之间的相关性
5. Tumour gene therapy using adenoviral vectors expressing tumour necrosis factor alpha. [D] . Marr, Robert Anthony. 2000

机译：使用表达肿瘤坏死因子α的腺病毒载体进行肿瘤基因治疗。
6. Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes [O] . Anna Clementi, Dinna N. Cruz, Antonio Granata, 2013

机译：携带家族性地中海热（FMF）和肿瘤坏死因子受体1综合征（TRAPS）基因突变的患者的继发性淀粉样变性
7. A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus [O] . H. Ida 2004

机译：在日本患者中编码肿瘤坏死因子受体超家族1A（TNFRSF1A）的新型突变（T61I），患有肿瘤坏死因子受体相关的周期综合征（Traps）与Systemic Lupus红斑相关的日本患者

Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes

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