Progress in newborn screening for hepatolenticular degeneration
10.3760/cma.j.cn114452-20240530-00282
- VernacularTitle:肝豆状核变性新生儿筛查研究进展
- Author:
Xianwei GUAN
1
;
Bin YU
Author Information
1. 南京医科大学附属妇产医院 南京市妇幼保健院遗传医学中心，南京 210004
- Publication Type:Journal Article
- Keywords:
Hepatolenticular degeneration;
Ceruloplasmin;
Genes;
Screening;
Metabolomics;
ATP7B peptide
- From:
Chinese Journal of Laboratory Medicine
2025;48(1):159-164
- CountryChina
- Language:Chinese
-
Abstract:
Hepatolenticular degeneration is a treatable genetic metabolic disorder with serious clinical implications. Early treatment leads to a better prognosis. Large-scale population screening in the neonatal period can effectively identify presymptomatic patients, achieving the goal of early detection, diagnosis, and treatment. This article introduces clinical protocols applicable for screening for newborns with hepatolenticular degeneration, along with emerging detection technologies that promote progress in newborn screening. The former mainly includes ceruloplasmin screening and ATP7B gene screening, while the latter mainly consists of metabolomics techniques, ATP7B peptide detection, proteomics techniques, and whole-genome sequencing. The article also provides a perspective on the future of newborn screening for this disease.
