Hereditary alpha tryptasemia and clinical implications  

作　　者：Ece TüsüzÖnata ÖnerÖzdemir Süreyya Savaşan 

机构地区：[1]Division of Allergy and Immunology,Department of Pediatrics,Sakarya Research and Training Hospital,Medical Faculty,Sakarya University,Sakarya 54100,Türkiye [2]Division of Allergy and Immunology,Department of Pediatrics,Sakarya Research and Training Hospital,Sakarya University,Faculty of Medicine,Sakarya 54100,Türkiye [3]Department of Pediatrics,Central Michigan University College of Medicine,Mt Pleasant,MI 48859,United States [4]Children’s Hospital of Michigan,Hematology/Oncology,Detroit,MI 48201,United States

出　　处：《World Journal of Clinical Cases》2025年第21期6-15,共10页世界临床病例杂志(英文)

摘　　要：Hereditary alpha tryptasemia was first described in 2016 and is the most common(up to 72%)cause of elevated serum basal tryptase(TPS).The clinical presentation of this condition,which is caused by copy number gains in the TPSAB1 gene encoding serumαTPS,is variable for each patient.Some patients are asymptomatic,whereas in others,especially those with increased mast cell activation,it has been associated with a higher risk of anaphylaxis.Better characterization of this entity is important to identify atrisk patients and to develop new treatment strategies.This review provided an overview of hereditary alpha tryptasemia and increased awareness of this condition by discussing the current information in the literature.

关 键 词：Tryptasemia Autosomal dominant Hereditary alpha tryptasemia Mast cell Tyrosine kinase protein 

分 类 号：R596[医药卫生—内科学]