Advances in research on the clinical phenotype and genetic etiology of jaundice associated with Hereditary bilirubin metabolic disorders.
10.3760/cma.j.cn511374-20210223-00150
- Author:
Beibei MA
1
;
Qinghua WU
Author Information
1. Department of Obstetrics, Puyang People's Hospital, Puyang, Henan 457005, China. qh_wu77@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Pregnancy;
Humans;
Metabolic Diseases/genetics*;
Jaundice/genetics*;
Bilirubin;
Genetic Counseling;
Phenotype
- From:
Chinese Journal of Medical Genetics
2023;40(11):1436-1440
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary bilirubin metabolic disorder is an important cause for jaundice. For its diverse types and similar clinical manifestations, it has been difficult to make a clear etiological diagnosis. The application of next generation sequencing in recent years has delineated the more and more genetic etiologies for jaundice. This article has reviewed the clinical manifestations and genetic etiology of bilirubin metabolic disorder jaundice, with an aim to enhance the understanding of such diseases and facilitate their clinical diagnosis and treatment, which will provide a reference for genetic counseling and/or prenatal diagnosis for the affected individuals and families.
