p.RQ92 mutation associated with amyloidosis

被引：0

作者：

Jose Nicolas-Sanchez, Francisco ^{[1
]}

Ignacio Arostegui-Gorospe, Juan ^{[2
]}

Pallares-Quixal, Judit ^{[3
]}

Josep Nicolas-Sarrat, Francesc ^{[1
]}

Maria Sarrat-Nuevo, Rosa ^{[1
]}

Nogue Bou, Ramon Maria ^{[1
]}

Jose Melgarejo-Moreno, Pablo ^{[1
]}

机构：

[1] Hosp Santa Maria, Serv Med Interna, Lleida, Spain

[2] Hosp Clin Barcelona, Inst Invest Biomed Agusti Pi i Sunyer IDIBAP, Serv Immunol, Barcelona, Spain

[3] Hosp Arnau Vilanova, Serv Anat Patol, Lleida, Spain

来源：

REUMATOLOGIA CLINICA | 2021年 / 17卷 / 01期

关键词：

p.RQ92; Amyloidosis; Tumour necrosis factor receptor-associated periodic syndrome;

D O I：

10.1016/j.reuma.2019.07.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Secondary amyloidosis can be found in some monogenic autoinflammatory diseases. In this study we present an 83-year-old man with no relevant medical history who presented with iron deficiency anaemia. In the study, a gastroscopy was performed with duodenum biopsy showing secondary AA-type amyloidosis. Genetic analyses of monogenic autoinflammatory diseases revealed the heterozygous p.R92Q variant in the TNFRSF1A gene, with negative results in the complementary tests for other causes of amyloidosis. In TRAPS, secondary amyloidosis has usually been associated with mutations affecting cysteine residues, but until now no association has been demonstrated with the p.RQ92 variant. Secondary amyloidosis may be present in carriers of the p.RQ92 variant, therefore it is important to diagnose it to prevent possible complications. (C) 2019 Elsevier Espana, S.L.U. and Sociedad Espanola de Reumatologia y Colegio Mexicano de Reumatologia. All rights reserved.

引用

页码：46 / 48

页数：3

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