Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature.

Yu ZhouWei WangLinqing ZhongLin WangMingsheng MaXiaoyan TangZhuo LiChangyan WangLijuan GouTiannan ZhangHong-Mei Song

Published in: Orphanet journal of rare diseases (2022)

In our study, we expanded the clinical spectrum as well as the genetic pathogenic variants of NLRP3-AID. We also found that there were some differences between Chinese patients and patients from other regions, and that Chinese patients were more likely to develop severe symptoms.

Keyphrases

end stage renal disease
copy number
newly diagnosed
ejection fraction
chronic kidney disease
genome wide
peritoneal dialysis
early onset
gene expression
dna methylation
sleep quality