학술논문
A neonate with a homozygous G71R variant of the UGT1A1 gene who required phototherapy for about 2 months / 約2カ月にわたり光線療法を要したUGT1A1遺伝子ホモ接合性G71Rバリアントの新生児例
Document Type
Journal Article
Author
Source
日本周産期・新生児医学会雑誌 / Journal of Japan Society of Perinatal and Neonatal Medicine. 2022, 58(1):200
Subject
Language
Japanese
ISSN
1348-964X
2435-4996
2435-4996
Abstract
UGT1A1 gene analysis revealed that the affected child was homozygous for a missense variant of G71R（Glu71Arg）. Genetic test should be considered when breast milk jaundice due to UGT1A1 gene mutation is suspected. Free bilirubin levels（unbound bilirubin: UB）can be a useful marker whether to treat the case of prolonged jaundice.