Observational Study
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 16, 2023; 11(11): 2443-2451
Published online Apr 16, 2023. doi: 10.12998/wjcc.v11.i11.2443
Etiology analysis for term newborns with severe hyperbilirubinemia in eastern Guangdong of China
Jia-Xin Xu, Fen Lin, Yong-Hao Wu, Zi-Kai Chen, Yu-Bin Ma, Li-Ye Yang
Jia-Xin Xu, Fen Lin, Yong-Hao Wu, Precision Medical Center, Chaozhou Central Hospital, Chaozhou 521021, Guangdong Province, China
Zi-Kai Chen, School of Food Engineering and Biotechnology, Hanshan Normal University, Chaozhou 521021, Guangdong Province, China
Yu-Bin Ma, Department of Pediatrics, Chaozhou Central Hospital, Chaozhou 521021, Guangdong Province, China
Li-Ye Yang, Precision Medical Lab Center, People’s Hospital of Yangjiang, Yangjiang 529500, Guangdong Province, China
Author contributions: Yang LY conceptualized and designed the study, coordinated and supervised data collection, and reviewed and revised the manuscript; Xu JX analyzed the data, drafted the initial manuscript, and revised the manuscript; Lin F collected the data, did the molecular analysis, and carried out the initial analysis; Chen ZK revised the manuscript; Wu YH and Ma YB participated in the sample and data collection and Wu YH performed the molecular analysis. All authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
Supported by the Natural Science Foundation of Guangdong Province, No. 2016A030307035; Special Research Plan 2019 of Chaozhou, No. 2020xg01; and High-Level Development Plan of People’s Hospital of Yangjiang, No. G2020007.
Institutional review board statement: The study was reviewed and approved by the Ethics Committee of Chaozhou Central Hospital (No. 2015001).
Informed consent statement: All study participants provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
Data sharing statement: The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.
STROBE statement: The manuscript was prepared and revised according to the STROBE statement.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Li-Ye Yang, MD, PhD, Chief Doctor, Precision Medical Lab Center, People’s Hospital of Yangjiang, No. 42 Dongshan Road, Jiangcheng District, Yangjiang 529500, Guangdong Province, China. yangleeyee@sina.com
Received: November 23, 2022
Peer-review started: November 23, 2022
First decision: February 2, 2023
Revised: February 9, 2023
Accepted: March 15, 2023
Article in press: March 15, 2023
Published online: April 16, 2023
Abstract
BACKGROUND

Neonatal hyperbilirubinemia is one of the common diseases of newborns that typically presents with yellow staining of skin, resulting in sequelaes such as hearing loss, motor and intellectual development disorders, and even death. The pathogenic factors of neonatal hyperbilirubinemia are complex. Different cases of hyperbilirubinemia may have a single or mixed etiology.

AIM

To explore the etiological characteristics of severe hyperbilirubinemia in term newborns of eastern Guangdong of China.

METHODS

Term newborns with severe hyperbilirubinemia in one hospital from January 2012 to December 2021 were retrospectively analyzed. The etiology was determined according to the laboratory results and clinical manifestations.

RESULTS

Among 1602 term newborns with hyperbilirubinemia in eastern Guangdong of China, 32.20% (580/1602) was severe hyperbilirubinemia. Among the causes of severe hyperbilirubinemia, neonatal hemolysis accounted for 15.17%, breast milk jaundice accounted for 12.09%, infection accounted for 10.17%, glucose-6-phosphate dehydrogenase (G6PD) deficiency accounted for 9.14%, and the coexistence of multiple etiologies accounted for 6.55%, unknown etiology accounted for 41.72%. ABO hemolysis and G6PD deficiency were the most common causes in the 20 cases with bilirubin encephalopathy. 94 severe hyperbilirubinemia newborns were tested for uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1)*6 variant (rs4148323, c.211G>A, p.Arg71Gly), 9 cases were 211 G to A homozygous variant, 37 cases were 211 G to A heterozygous variant, and 48 cases were wild genotypes.

CONCLUSION

The main cause for severe hyperbilirubinemia and bilirubin encephalopathy in eastern Guangdong of China were the hemolytic disease of the newborns, G6PD deficiency and infection. UGT1A1 gene variant was also a high-risk factor for neonatal hyperbilirubinemia. Targeted prevention and treatment according to the etiology may reduce the occurrence of bilirubin encephalopathy and kernicterus.

Keywords: Severe hyperbilirubinemia, Term newborns, Etiology, Uridine diphosphate glucuronosyl transferase 1A1, Glucose-6-phosphate dehydrogenase deficiency

Core Tip: The main cause for severe hyperbilirubinemia and bilirubin encephalopathy in eastern Guangdong of China were the hemolytic disease of the newborns, glucose-6-phosphate dehydrogenase deficiency and infection. UGT1A1 gene variant was also a high-risk factor for neonatal hyperbilirubinemia.