Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.
Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.
复制标题
常染色体显性周期性发热伴 AA 淀粉样变性：肿瘤坏死因子受体 1 基因快速通讯的新突变。
作者：
M. Jadoul;C. Dodé;J. Cosyns;D. Abramowicz;B. Georges;M. Delpech;Y. Pirson
背景
最近发现的周期性发热伴淀粉样变性综合征的基因为遗传性AA淀粉样变性的分子诊断开辟了道路。
方法
一名比利时妇女接受遗传咨询。三名一级亲属被诊断为肾淀粉样变性，有反复发热和炎症发作史。从负责她的三名亲属的所有医生那里获得了病历和病理标本。对石蜡包埋材料进行免疫组织化学染色。在MEFV（地中海热）和肿瘤坏死因子受体1（TNFR1或TNFRSF1A）基因中进行突变搜索，分别导致家族性地中海热（FMF）和肿瘤坏死因子受体相关周期性综合征（TRAPS）。
结果
家族史与常染色体显性遗传的周期性发热伴关节痛、腹痛和最终累及肾脏、消化道和甲状腺的AA淀粉样变性的传播一致。1例患者移植肾中复发性淀粉样变性，另1例疑似。一种新的杂合突变（C55S）在TNFRSF1A被确定在受影响的患者可进行基因检测，但没有在无症状的妇女需要咨询。在MEFV中未检测到突变。
结论
我们报告了TNFRSF1A的一种新突变（C55S），导致常染色体显性周期性发热和AA淀粉样变性。这种情况，称为TRAPS，应该被添加到遗传性肾淀粉样变性的鉴别诊断中，对治疗和遗传咨询有明显的意义。
BACKGROUND
The recent identification of genes responsible for syndromes of periodic fever with amyloidosis has opened the way to a molecular diagnosis of hereditary AA amyloidosis.
METHODS
A Belgian woman presented for genetic counseling. Three first-degree relatives had a diagnosis of renal amyloidosis with a history of recurrent fever and inflammatory episodes. Medical records and pathological specimens were obtained from all physicians who had been in charge of her three relatives. Immunohistochemical staining was performed on paraffin-embedded material. A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively.
RESULTS
The family history was consistent with autosomal-dominant transmission of periodic fever with arthralgias, abdominal pain, and eventual AA amyloidosis involving the kidneys, digestive tract, and thyroid. Recurrent amyloidosis in kidney graft was demonstrated in one patient and was suspected in the other. A novel heterozygous mutation (C55S) in TNFRSF1A was identified in the affected patient available for genetic testing but not in the asymptomatic woman requiring counseling. No mutation was detected in MEFV.
CONCLUSIONS
We report a novel mutation (C55S) in TNFRSF1A, resulting in autosomal-dominant periodic fever and AA amyloidosis. This condition, known as TRAPS, should be added to the differential diagnosis of hereditary renal amyloidosis, with obvious implications for management and genetic counseling.
影响因子：
158.5
作者：
Wolfe, RA;Ashby, VB;Port, FK
通讯作者：
Port, FK